Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.E1157_R1158delFs
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APC

NM_000038.6:p.E1157_R1158delFs

Associated Papers

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.

Yin X et al.

American Journal of Human Genetics, 2024

39357517 (PubMed )
Supplement: mmc2.xlsx › e_Cli-data

Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report.

Khider F et al.

Molecular Biology Reports, 2022

Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

Papp J et al.

Familial Cancer, 2016

Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.

Stekrova J et al.

Bmc Medical Genetics, 2007

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Molecular analysis of the APC and MYH genes in Czech families affected by FAP or multiple adenomas: 13 novel mutations.

Vandrovcová J et al.

Human Mutation, 2004

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."