Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E290*
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GCK

NM_000162.5:p.E290*

Associated Papers

An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

Lucchesi D et al.

Acta Diabetologica, 2024

NGS Analysis Revealed Digenic Heterozygous GCK and HNF1A Variants in a Child with Mild Hyperglycemia: A Case Report.

Iafusco F et al.

Diagnostics (basel, Switzerland), 2021

Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

Tinto N et al.

Plos One, 2008

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