Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.L548V
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APC

NM_000038.6:p.L548V

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

Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection.

Ottaiano A et al.

Therapeutic Advances in Medical Oncology, 2022

36518158 (PubMed )
Supplement: sj-xlsx-3-tam-10.1177_17588359221138388.xlsx › Sheet1

Novel LRRK2 mutations and other rare, non-BAP1-related candidate tumor predisposition gene variants in high-risk cancer families with mesothelioma and other tumors.

Cheung M et al.

Human Molecular Genetics, 2021

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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."