Associated Papers
Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.
Bouvet D et al.
Human Mutation, 2023
40225161 (PubMed )
Supplement: 6661013.f4.pdf
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Family_Members
Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations.
Wang C et al.
Diabetes Research and Clinical Practice, 2012
Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.
Jeannot E et al.
Diabetes, 2010
Bi-allelic inactivation of TCF1 in hepatic adenomas.
Bluteau O et al.
Nature Genetics, 2002
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