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10 merged results for "ENPP1 Mutations"

Partial results: at least one source did not answer. Available results are shown rather than treating an upstream outage as zero matches.

Source status
  1. A novel murine model of early calcium pyrophosphate deposition disease based on the TNFRSF11B mutation mimics features of the human disease.

    Wang C, Gohr CM, Mitton-Fitzgerald E, Oestreich AK · 2026 · Annals of the rheumatic diseases

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.ard.2026.02.014

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  2. Perinatal Diagnosis of Generalized Arterial Calcification of Infancy: First Genetically Confirmed ENPP1 Case in an Egyptian Fetus.

    Tarek A, Tohamy W, Hany H, Khalifa MK · 2026 · Journal, genetic engineering & biotechnology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.jgeb.2026.100754

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  3. Three People With Recurrent Nephrolithiasis and Heterozygous ABCC6 Mutations.

    Farrell D, Uribarri J, Pitman TR, Lebwohl M · 2026 · Kidney medicine

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.xkme.2026.101271

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  4. Atomic-level protein-ligand recognition with PBCNet2.0 for probe discovery.

    Yu J, Sheng X, Fan Z, Wang Z · 2026 · Nature chemical biology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1038/s41589-026-02241-x

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  5. Molecular mechanisms of ANKH function and regulation in skeletal mineralization.

    Wathuliyadde N, Willmore KE, Kelly GM · 2026 · JBMR plus

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1093/jbmrpl/ziag100

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  6. SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease.

    Uçar A, Albader N, Qattan A, BinEssa HA · 2026 · Orphanet journal of rare diseases

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1186/s13023-026-04335-0

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  7. Novel ENPP1 Gene Mutation Causing Generalized Arterial Calcification of Infancy: A case report.

    AlTurki HM, AlFaris HS, Al-Owain MA, Abukhalid MF · 2026 · Neurosciences (Riyadh, Saudi Arabia)

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.17712/1658-3183.1011

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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    • not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  8. Integrated Immunotherapy Target Atlas for Ewing Sarcoma.

    Goldman C · 2026 · Cancer genomics & proteomics

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.21873/cgp.20605

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  9. Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant.

    Buccoliero AM, Mancano G, Cioni ML, Panzuto C · 2025 · Pathologica

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.32074/1591-951x-1624

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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    • not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  10. Generalized Arterial Calcification of Infancy (GACI): State of the Art and Clinical Perspectives.

    Castaldi B, Imperatore G, Pomiato E, Di Salvo G · 2026 · Journal of cardiovascular development and disease

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3390/jcdd13050184

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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    • not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer