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: MC1R: F76Y; rs749221540

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Molecular Cell

Cao, Juxiang J; Wan, Lixin L; Hacker, Elke E; Dai, Xiangpeng X; Lenna, Stefania S; Jimenez-Cervantes, Celia C; Wang, Yongjun Y; Leslie, Nick R NR; Xu, George X GX; Widlund, Hans R HR; Ryu, Byungwoo B; Alani, Rhoda M RM; Dutton-Regester, Ken K; Goding, Colin R CR; Hayward, Nicholas K NK; Wei, Wenyi W; Cui, Rutao R

Publication Date: 2013-08-22

Variant appearance in text: MC1R: F76Y

PubMed Link: 23973372

Variant Present in the following documents:

• Main text

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