Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.H50fs
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GCK

NM_000162.5:p.H50fs

Associated Papers

Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young.

Wang T et al.

Endocrine, 2024

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

Noninvasive Fetal Genotyping by Droplet Digital PCR to Identify Maternally Inherited Monogenic Diabetes Variants.

Caswell RC et al.

Clinical Chemistry, 2020

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