Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.Q1062_S1063delFs
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APC

NM_000038.6:p.Q1062_S1063delFs

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

Adenomatous Polyposis Coli Gene Mutations in 22 Chinese Pedigrees with Familial Adenomatous Polyposis.

Wang D et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2019

[Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis].

Chen Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1

[Germline mutation of adenomatous polyposis coli gene in Chinese patients with familial adenomatous polyposis].

Wang TT et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008

APC gene mutations causing familial adenomatous polyposis in Polish patients.

Plawski A et al.

Journal of Applied Genetics, 2008

Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?

Aretz S et al.

Pediatric Blood & Cancer, 2006

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

Friedl W et al.

Hereditary Cancer in Clinical Practice, 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."