Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.S572S
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ABCC8

NM_000352.6:p.S572S

Associated Papers

A homozygous exonic variant leading to exon skipping in ABCC8 as the cause of severe congenital hyperinsulinism.

Reyes Diaz JV et al.

American Journal of Medical Genetics. Part A, 2022

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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."