Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.D1471Splc
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ABCC8

NM_000352.6:p.D1471Splc

Associated Papers

Whole-exome sequencing reveals the genetic causes and modifiers of moyamoya syndrome.

Nakamura A et al.

Scientific Reports, 2024

Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.

Lee BH et al.

Hormone Research in Paediatrics, 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."