Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.F423Y
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GCK

NM_000162.5:p.F423Y

Associated Papers

Maturity-onset diabetes of the young in a large Portuguese cohort.

Santos Monteiro S et al.

Acta Diabetologica, 2023

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

Abreu GM et al.

Frontiers in Endocrinology, 2022

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations.

Alvelos MI et al.

Journal of Clinical Medicine, 2020

Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

Santana LS et al.

Clinical Genetics, 2017

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data.

Giuffrida FMA et al.

Diabetes Research and Clinical Practice, 2017

A novel genetic mutation in a Portuguese family with GCK-MODY.

Almeida C et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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

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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