Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.D311fs
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GCK

NM_000162.5:p.D311fs

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_Family_Members

Evaluation of pregnancy outcomes in women with GCK-MODY.

López Tinoco C et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2021

Whole‑exome sequencing in Russian children with non‑type 1 diabetes mellitus reveals a wide spectrum of genetic variants in MODY‑related and unrelated genes.

Glotov OS et al.

Molecular Medicine Reports, 2019

The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young.

Bacon S et al.

American Journal of Obstetrics and Gynecology, 2015

Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward.

Bacon S et al.

Bmc Endocrine Disorders, 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."