Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.R904delFs
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APC

NM_000038.6:p.R904delFs

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

Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes.

Xavier A et al.

Clinical Genetics, 2021

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

Aceto G et al.

Human Mutation, 2005

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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."