Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L20R
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GCK

NM_000162.5:p.L20R

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 › GEMME_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 › ddG_1V4S

A comprehensive map of human glucokinase variant activity.

Gersing S et al.

Genome Biology, 2023

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

High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.

Zubkova N et al.

Acta Diabetologica, 2019

[MODY2: Clinical and molecular genetic characteristics of 13 cases of the disease. The first description of MODY in Russia].

Dedov II et al.

Problemy Endokrinologii, 2009

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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."