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: 5879T>A; Ile1960Asn; rs587782503

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.

Plos One

França, Monica M MM; Funari, Mariana F A MFA; Lerario, Antonio M AM; Santos, Mariza G MG; Nishi, Mirian Y MY; Domenice, Sorahia S; Moraes, Daniela R DR; Costalonga, Everlayny F EF; Maciel, Gustavo A R GAR; Maciel-Guerra, Andrea T AT; Guerra-Junior, Gil G; Mendonca, Berenice B BB

Publication Date: 2020

Variant appearance in text: ATM: 5879T>A; I1960N; rs587782503

PubMed Link: 33095795

Variant Present in the following documents:

• Main text
• pone.0240795.pdf

View BVdb publication page