Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.R422P
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GCK

NM_000162.5:p.R422P

Associated Papers

Comparison of Variants of Uncertain Significance in Three Regions of the Human Glucokinase Protein Using In Vitro and In Silico Analyses.

Gay C et al.

Cureus, 2024

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

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

Goksen D et al.

Diabetes Research and Clinical Practice, 2023

Characteristics of maturity onset diabetes of the young in a large diabetes center.

Chambers C et al.

Pediatric Diabetes, 2016

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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."