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: 4237G>A; Asp1413Asn

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Comprehensive Genomic Profiling of a Rare Thyroid Follicular Dendritic Cell Sarcoma.

Rare Tumors

Davila, Jaime I JI; Starr, Jason S JS; Attia, Steven S; Wang, Chen C; Knudson, Ryan A RA; Necela, Brian M BM; Sarangi, Vivekananda V; Sun, Zhifu Z; Ren, Yingxue Y; Casler, John D JD; Menke, David M DM; Oliver, Gavin R GR; Joseph, Richard W RW; Copland, John A JA; Parker, Alexander S AS; Kocher, Jean-Pierre A JA; Thompson, E Aubrey EA; Smallridge, Robert C RC; Asmann, Yan W YW

Publication Date: 2017-07-03

Variant appearance in text: ATM: D1413N

PubMed Link: 28975018

Variant Present in the following documents:

• Main text
• rt-9-2-6834.pdf

View BVdb publication page