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: rs1333596595

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Prevalence of loss-of-function FTO mutations in lean and obese individuals.

Diabetes

Meyre, David D; Proulx, Karine K; Kawagoe-Takaki, Hiroko H; Vatin, Vincent V; Gutiérrez-Aguilar, Ruth R; Lyon, Debbie D; Ma, Marcella M; Choquet, Helene H; Horber, Fritz F; Van Hul, Wim W; Van Gaal, Luc L; Balkau, Beverley B; Visvikis-Siest, Sophie S; Pattou, François F; Farooqi, I Sadaf IS; Saudek, Vladimir V; O'Rahilly, Stephen S; Froguel, Philippe P; Sedgwick, Barbara B; Yeo, Giles S H GS

Publication Date: 2010-01

Variant appearance in text: FTO: C456C

PubMed Link: 19833892

Variant Present in the following documents:

• Main text

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