Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.T1515A
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ABCC8

NM_000352.6:p.T1515A

Associated Papers

Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.

Sampathkumar G et al.

Journal of Endocrinological Investigation, 2022

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Clinical and genetic characterization of congenital hyperinsulinism in Spain.

Martínez R et al.

European Journal of Endocrinology, 2016

Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

Bennett JT et al.

Molecular Genetics and Metabolism, 2015

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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."