Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.W167R
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GCK

NM_000162.5:p.W167R

Associated Papers

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

The glucokinase mutation p.T206P is common among MODY patients of Jewish Ashkenazi descent.

Gozlan Y et al.

Pediatric Diabetes, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."