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: SI: I1260V; rs1414768393

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Directed evolution of a sphingomyelin flippase reveals mechanism of substrate backbone discrimination by a P4-ATPase.

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

Roland, Bartholomew P BP; Graham, Todd R TR

Publication Date: 2016-08-02

Variant appearance in text: SI: I1260V

PubMed Link: 27432949

Variant Present in the following documents:

• Main text

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