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: 2192A>T; Tyr731Phe; rs730881345

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Correction of X-CGD patient HSPCs by targeted CYBB cDNA insertion using CRISPR/Cas9 with 53BP1 inhibition for enhanced homology-directed repair.

Gene Therapy

Sweeney, Colin L CL; Pavel-Dinu, Mara M; Choi, Uimook U; Brault, Julie J; Liu, Taylor T; Koontz, Sherry S; Li, Linhong L; Theobald, Narda N; Lee, Janet J; Bello, Ezekiel A EA; Wu, Xiaolin X; Meis, Ronald J RJ; Dahl, Gary A GA; Porteus, Matthew H MH; Malech, Harry L HL; De Ravin, Suk See SS

Publication Date: 2021-06

Variant appearance in text: ATM: Y731F

PubMed Link: 33712802

Variant Present in the following documents:

• Main text
• nihms-1677473.pdf

View BVdb publication page