Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Y1353*
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ABCC8

NM_000352.6:p.Y1353*

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

[Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism].

Gubaeva DN et al.

Problemy Endokrinologii, 2019

Activation mechanism of ATP-sensitive K+ channels explored with real-time nucleotide binding.

Puljung M et al.

Elife, 2019

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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."