Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.S1219delFs
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APC

NM_000038.6:p.S1219delFs

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

Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).

Bisgaard ML et al.

Human Mutation, 2004

De novo mutations in familial adenomatous polyposis (FAP).

Ripa R et al.

European Journal of Human Genetics : Ejhg, 2002

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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."