Whole-Exome Sequencing Reveals a Rare Variant of OTOF Gene Causing Congenital Non-syndromic Hearing Loss Among Large Muslim Families Favoring Consanguinity.
Frontiers In Genetics
Fareed, Mohd M; Sharma, Varun V; Singh, Inderpal I; Rehman, Sayeed Ur SU; Singh, Gurdarshan G; Afzal, Mohammad M
Publication Date: 2021
Variant appearance in text: NUDT14: 253G>A; Gly85Arg
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12
Variant appearance in text: NUDT14: 253G>A; G85R; rs144645678
Exome scale map of genetic alterations promoting metastasis in colorectal cancer.
Bmc Genetics
Goryca, Krzysztof K; Kulecka, Maria M; Paziewska, Agnieszka A; Dabrowska, Michalina M; Grzelak, Marta M; Skrzypczak, Magdalena M; Ginalski, Krzysztof K; Mroz, Andrzej A; Rutkowski, Andrzej A; Paczkowska, Katarzyna K; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2018-09-19
Variant appearance in text: NUDT14: G85R; rs144645678