Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.R1493G
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ABCC8

NM_000352.6:p.R1493G

Associated Papers

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants

Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.

Aarthy R et al.

Journal of Diabetes and Its Complications, 2021

Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.

Li M et al.

Journal of Diabetes Research, 2021

34631896 (PubMed )
Supplement: 9479268.f1.pdf
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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."