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: 1394G>C; C465S

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

High-resolution melting curve analysis for rapid detection of mutations in a Medaka TILLING library.

Bmc Molecular Biology

Ishikawa, Tomoko T; Kamei, Yasuhiro Y; Otozai, Shinji S; Kim, Jinhyong J; Sato, Ayuko A; Kuwahara, Yoshikazu Y; Tanaka, Minoru M; Deguchi, Tomonori T; Inohara, Hidenori H; Tsujimura, Tohru T; Todo, Takeshi T

Publication Date: 2010-09-15

Variant appearance in text: ATM: C465S

PubMed Link: 20840787

Variant Present in the following documents:

• Main text
• 1471-2199-11-70.pdf

View BVdb publication page