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: TTN: T101A; rs138945705

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Visualizing functional motions of membrane transporters with molecular dynamics simulations.

Biochemistry

Shaikh, Saher A SA; Li, Jing J; Enkavi, Giray G; Wen, Po-Chao PC; Huang, Zhijian Z; Tajkhorshid, Emad E

Publication Date: 2013-01-29

Variant appearance in text: TMD: T101A

PubMed Link: 23298176

Variant Present in the following documents:

• Main text

View BVdb publication page