Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Y1166insFs
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APC

NM_000038.6:p.Y1166insFs

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

Immunohistochemical expression of MYH protein can be used to identify patients with MYH-associated polyposis.

Di Gregorio C et al.

Gastroenterology, 2006

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 2005

Germline APC mutation on the beta-catenin binding site is associated with a decreased apoptotic level in colorectal adenomas.

Venesio T et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2003

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

Friedl W et al.

Gut, 2001

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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."