Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D187Y
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GCK

NM_000162.5:p.D187Y

Associated Papers

Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V et al.

Bmc Medicine, 2017

Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

George DC et al.

Theranostics, 2014

24578721 (PubMed )
Supplement: thnov04p0366s1.pdf

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Estalella I et al.

Clinical Endocrinology, 2007

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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."