Publications:

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: 5509T>G; Phe1837Val

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Driver gene alterations and activated signaling pathways toward malignant progression of gastrointestinal stromal tumors.

Cancer Science

Ohshima, Keiichi K; Fujiya, Keiichi K; Nagashima, Takeshi T; Ohnami, Sumiko S; Hatakeyama, Keiichi K; Urakami, Kenichi K; Naruoka, Akane A; Watanabe, Yuko Y; Moromizato, Sachi S; Shimoda, Yuji Y; Ohnami, Shumpei S; Serizawa, Masakuni M; Akiyama, Yasuto Y; Kusuhara, Masatoshi M; Mochizuki, Tohru T; Sugino, Takashi T; Shiomi, Akio A; Tsubosa, Yasuhiro Y; Uesaka, Katsuhiko K; Terashima, Masanori M; Yamaguchi, Ken K

Publication Date: 2019-12

Variant appearance in text: ATM: 5509T>G; F1837V; rs876660472

PubMed Link: 31553483

Variant Present in the following documents:

• CAS-110-3821-s012.xlsx, sheet 1
• CAS-110-3821-s012.xlsx, sheet 2

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Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.

International Journal Of Breast Cancer

Pesaran, T T; Karam, R R; Huether, R R; Li, S S; Farber-Katz, S S; Chamberlin, A A; Chong, H H; LaDuca, H H; Elliott, A A

Publication Date: 2016

Variant appearance in text: ATM: 5509T>G

PubMed Link: 27822389

Variant Present in the following documents:

• Main text
• IJBC2016-2469523.pdf

View BVdb publication page