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: FTO: I492V; rs373102373

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Heterozygous rare genetic variants in non-syndromic early-onset obesity.

International Journal Of Obesity (2005)

Serra-Juhé, Clara C; Martos-Moreno, Gabriel Á GÁ; Bou de Pieri, Francesc F; Flores, Raquel R; Chowen, Julie A JA; Pérez-Jurado, Luis A LA; Argente, Jesús J

Publication Date: 2020-04

Variant appearance in text: FTO: I492V

PubMed Link: 30926952

Variant Present in the following documents:

• 41366_2019_357_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Screening for coding variants in FTO and SH2B1 genes in Chinese patients with obesity.

Plos One

Zheng, Zhaojing Z; Hong, Li L; Huang, Xiaodong X; Yang, Peirong P; Li, Juan J; Ding, Yu Y; Yao, Ru-En RE; Geng, Juan J; Shen, Yongnian Y; Shen, Yiping Y; Fu, Qihua Q; Yu, Yongguo Y

Publication Date: 2013

Variant appearance in text: FTO: I492V

PubMed Link: 23825611

Variant Present in the following documents:

• Main text
• pone.0067039.pdf

View BVdb publication page

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: I492V

PubMed Link: 19833892

Variant Present in the following documents:

• Main text
• zdb311.pdf

View BVdb publication page