Publications:

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Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

American Journal Of Human Genetics

Mirshahi, Uyenlinh L UL; Colclough, Kevin K; Wright, Caroline F CF; Wood, Andrew R AR; Beaumont, Robin N RN; Tyrrell, Jessica J; Laver, Thomas W TW; Stahl, Richard R; Golden, Alicia A; Goehringer, Jessica M JM; , ; Frayling, Timothy F TF; Hattersley, Andrew T AT; Carey, David J DJ; Weedon, Michael N MN; Patel, Kashyap A KA

Publication Date: 2022-11-03

Variant appearance in text: HNF4A: 692G>A; Arg231Gln

PubMed Link: 36257325

Variant Present in the following documents:

• mmc2.xlsx, sheet 2
• mmc2.xlsx, sheet 1

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: HNF4A: 692G>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: HNF4A: 692G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: HNF4A: 692G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: HNF4A: 692G>A

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans.

Diabetes

Andersson, Ehm A EA; Holst, Birgitte B; Sparsø, Thomas T; Grarup, Niels N; Banasik, Karina K; Holmkvist, Johan J; Jørgensen, Torben T; Borch-Johnsen, Knut K; Egerod, Kristoffer L KL; Lauritzen, Torsten T; Sørensen, Thorkild I A TI; Bonnefond, Amélie A; Meyre, David D; Froguel, Philippe P; Schwartz, Thue W TW; Pedersen, Oluf O; Hansen, Torben T

Publication Date: 2010-06

Variant appearance in text: MODY: 692G>A

PubMed Link: 20200315

Variant Present in the following documents:

• Main text

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