Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.G97Splc
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ABCC8

NM_000352.6:p.G97Splc

Associated Papers

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.

Billings LK et al.

Endocrinology, Diabetes & Metabolism, 2022

36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1

Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.

Lee DH et al.

Bmj Open Diabetes Research & Care, 2021

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › ABCC8
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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."