Publications:

Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science

Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K

Publication Date: 2022-04

Variant appearance in text: ATM: 1340G>T

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 1340G>T; Arg447Leu

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

American Journal Of Human Genetics

Huber, Céline C; Wu, Sulin S; Kim, Ashley S AS; Sigaudy, Sabine S; Sarukhanov, Anna A; Serre, Valérie V; Baujat, Genevieve G; Le Quan Sang, Kim-Hanh KH; Rimoin, David L DL; Cohn, Daniel H DH; Munnich, Arnold A; Krakow, Deborah D; Cormier-Daire, Valérie V

Publication Date: 2013-11-07

Variant appearance in text: ATD: 1340G>T

PubMed Link: 24183449

Variant Present in the following documents:

• Main text

View BVdb publication page