Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ATM: V986A; rs373225328

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: 2957T>C; V986A; rs373225328

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Reversing the direction of drug transport mediated by the human multidrug transporter P-glycoprotein.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Sajid, Andaleeb A; Lusvarghi, Sabrina S; Murakami, Megumi M; Chufan, Eduardo E EE; Abel, Biebele B; Gottesman, Michael M MM; Durell, Stewart R SR; Ambudkar, Suresh V SV

Publication Date: 2020-11-24

Variant appearance in text: ATM: V986A

PubMed Link: 33168729

Variant Present in the following documents:

• Main text
• pnas.202016270.pdf

View BVdb publication page