A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.

Sarkar S, Rana AN, Gianneschi G, Bizargity P

DOI: 10.1155/crig/8875290
Published: 2026
Container: Case reports in genetics
Publisher: Not recorded
Open access: yes

Credibility signals

limited evidence Score 45/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

cautionDOI registered: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
cautionDOI resolves: No matching Crossref record was present in this response. Source: Crossref; license: CC0 metadata
not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility. Source: DOAJ; license: CC0
not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
not scoredROR affiliation: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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

Cite this work

BibTeX

@article{allodium:10.1155/crig/8875290,
  title = {A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.},
  author = {Sarkar S and Rana AN and Gianneschi G and Bizargity P},
  year = {2026},
  journal = {Case reports in genetics},
  doi = {10.1155/crig/8875290},
  url = {https://doi.org/10.1155/crig/8875290}
}

RIS

TY  - JOUR
TI  - A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.
AU  - Sarkar S
AU  - Rana AN
AU  - Gianneschi G
AU  - Bizargity P
PY  - 2026
JO  - Case reports in genetics
DO  - 10.1155/crig/8875290
UR  - https://doi.org/10.1155/crig/8875290
ER  -

APA

S, S., AN, R., G, G., & P, B. (2026). A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.. Case reports in genetics. https://doi.org/10.1155/crig/8875290

Source records

pubmed · retrieved 2026-09-26T05:03:36.493Z