Publications:

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: 956T>C; Leu319Pro

PubMed Link: 36257325

Variant Present in the following documents:

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

View BVdb publication page

Update on Monogenic Diabetes in Korea.

Diabetes & Metabolism Journal

Yang, Ye Seul YS; Kwak, Soo Heon SH; Park, Kyong Soo KS

Publication Date: 2020-10

Variant appearance in text: HNF4A: Leu319Pro

PubMed Link: 33115208

Variant Present in the following documents:

• Main text
• dmj-2020-0214.pdf

View BVdb publication page

Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: HNF4A: L319P

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page