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: D458N; rs535241759

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Fitness selection of hyperfusogenic measles virus F proteins associated with neuropathogenic phenotypes.

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

Ikegame, Satoshi S; Hashiguchi, Takao T; Hung, Chuan-Tien CT; Dobrindt, Kristina K; Brennand, Kristen J KJ; Takeda, Makoto M; Lee, Benhur B

Publication Date: 2021-05-04

Variant appearance in text: SI: D458N

PubMed Link: 33903248

Variant Present in the following documents:

• Main text

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