Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.L430L
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GCK

NM_000162.5:p.L430L

Associated Papers

Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.

Schroeder P et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808701 (PubMed )
Supplement: media-2.xlsx › T6

Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes?

Majidi S et al.

Diabetes Technology & Therapeutics, 2018

29355436 (PubMed )
Supplement: sj-pdf-1-dtt-10.1089_dia.2017.0317.pdf

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."