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10 merged results for "Nonsense-Mediated Decay"

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

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  1. Intron Retention Caused by a Novel Homozygous LNPK Splice-Site Variant Leading to Severe Neurodevelopmental Disorder and Epilepsy.

    Gökpınar İli E, İlbasmış H, Altıner Ş, Kaynak Şahap S · 2026 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1002/ajmg.b.70042

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    • 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. [Nonsense mutations: from premature stop codons to correction strategies].

    Desvages T, Houpe L, Lejeune F · 2026 · Medecine sciences : M/S

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1051/medsci/2026149

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    • 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. Gene-targeted therapies in inherited bone marrow failure syndromes.

    Cipolli M, Bezzerri V · 2026 · Seminars in hematology

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1053/j.seminhematol.2026.09.012

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    • 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. A Novel Deep-Intronic Variant in HES7 Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis.

    Lucas-Castro E, León-López M, Ráez-Casarrubios A, Díaz-González F · 2026 · Clinical genetics

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1111/cge.70271

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    • 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. Growth Impairment and Neurodevelopmental Features in Kabuki Syndrome Type 2: A Case Report With a Novel KDM6A Frameshift Mutation.

    Najafzade S, Honarmand H, Bonyadi M, Barzegar M · 2026 · Case reports in pediatrics

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1155/crpe/3013437

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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
    • 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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    • 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. Structural Modelling and Clinical Interpretation of CDKN1B and CDKN2C Variants in Patients with MEN-like Phenotypes: A Case Series.

    Papadopoulou-Marketou N, Milou C, Papakonstantinou E, Vlachakis D · 2026 · Endocrine-related cancer

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1530/erc-26-0093

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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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    • 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. Differential regulation of the Saccharomyces cerevisiae iron regulon by the nonsense- mediated mRNA decay pathway under iron scarcity.

    Carroll J, Chao J, Kebaara BW · 2026 · Research square

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.21203/rs.3.rs-11245789/v1

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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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    • 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. CRISPR-mediated correction of oncogenic AS-NMD in splicing factor mutant cancer.

    Nagar P, Islam MR, Rahman NA, Heeamoni SA · 2026 · Frontiers in immunology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3389/fimmu.2026.1958532

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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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    • 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. Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles.

    Xu J, Schmidt J, Campbell A, Bozkurt-Yozgatli T · 2026 · medRxiv : the preprint server for health sciences

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.64898/2025.12.01.25341387

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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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    • 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. The RES complex core subunits Snu17 and Bud13 buffer the spliceosome against intrinsically weak splicing signals in budding yeast.

    Quintor JAA, Chanfreau GF · 2026 · bioRxiv : the preprint server for biology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.64898/2026.10.19.760215

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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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    • 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