Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP-Reference-Cited by-同舟云学术

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Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP

Published:2010-08-03 Issue:10 Volume:47 Page:721-722
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Lagarde A.,Rouleau E.,Ferrari A.,Noguchi T.,Qiu J.,Briaux A.,Bourdon V.,Remy V.,Gaildrat P.,Adelaide J.,Birnbaum D.,Lidereau R.,Sobol H.,Olschwang S.

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Cited by 34 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Systematic large-scale application of ClinGen InSiGHTAPC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases;2024-05-04

2. Identification of a novel CNV at the APC gene in a Chinese family with familial adenomatous polyposis;Frontiers in Molecular Biosciences;2023-07-27

3. Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization;European Journal of Human Genetics;2023-02-24

4. Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report;Molecular Biology Reports;2022-02-10

5. Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate genes;European Journal of Medical Genetics;2022-01

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