Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.G227R
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GCK

NM_000162.5:p.G227R

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

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_Probands
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