Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.A173T
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GCK

NM_000162.5:p.A173T

Associated Papers

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Genome Biology, 2024

38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › abundance_scores

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.

Gersing S et al.

Biorxiv : the Preprint Server for Biology, 2023

37292969 (PubMed )
Supplement: media-2.xlsx › abundance_scores

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › activity_scores

The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.

Ivanoshchuk D et al.

Journal of Personalized Medicine, 2023

36836406 (PubMed )
Supplement: jpm-13-00172-s001.zip › jpm-2120690-supplementary.pdf

Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.

Rafique I et al.

World Journal of Diabetes, 2021

The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.

Ivanoshchuk DE et al.

Journal of Personalized Medicine, 2021

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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."