Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q203*
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APC

NM_000038.6:p.Q203*

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

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Li J et al.

American Journal of Human Genetics, 2016

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Rohlin A et al.

Oncogene, 2011

Allele-specific expression of APC in adenomatous polyposis families.

Castellsagué E et al.

Gastroenterology, 2010

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA et al.

Journal of Cancer Research and Clinical Oncology, 2009

Alternative genetic pathways in colorectal carcinogenesis.

Olschwang S et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

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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."