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: PC: G957R; rs897249836

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Determinants of host susceptibility to murine respiratory syncytial virus (RSV) disease identify a role for the innate immunity scavenger receptor MARCO gene in human infants.

Ebiomedicine

High, Monica M; Cho, Hye-Youn HY; Marzec, Jacqui J; Wiltshire, Tim T; Verhein, Kirsten C KC; Caballero, Mauricio T MT; Acosta, Patricio L PL; Ciencewicki, Jonathan J; McCaw, Zackary R ZR; Kobzik, Lester L; Miller-DeGraff, Laura L; Gladwell, Wes W; Peden, David B DB; Serra, M Elina ME; Shi, Min M; Weinberg, Clarice C; Suzuki, Oscar O; Wang, Xuting X; Bell, Douglas A DA; Polack, Fernando P FP; Kleeberger, Steven R SR

Publication Date: 2016-09

Variant appearance in text: PC: Gly957Arg

PubMed Link: 27554839

Variant Present in the following documents:

• Main text
• main.pdf

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