Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.H424Y
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GCK

NM_000162.5:p.H424Y

Associated Papers

Recognition of GCK Homozygote missense (His424Tyr) variant in a female patient with neonatal hyperglycemia.

Pashapour Yeganeh A et al.

Journal of Diabetes and Metabolic Disorders, 2024

Targeted sequencing identifies novel variants in common and rare MODY genes.

de Santana LS et al.

Molecular Genetics & Genomic Medicine, 2019

31595705 (PubMed )
Supplement: MGG3-7-e962-s003.docx

Glucokinase mutations in pediatric patients with impaired fasting glucose.

Aloi C et al.

Acta Diabetologica, 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

Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort.

Borowiec M et al.

Clinical Genetics, 2012

Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population.

Solera J et al.

Diabetes Research and Clinical Practice, 2009

Long-Term Observation of a Man With Severe Obesity and Undiagnosed Monogenic Diabetes Serendipitously Treated With Metabolic Surgery.

Pandian B et al.

Journal of Investigative Medicine High Impact Case Reports, 0

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