Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.A1330Splc
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ABCC8

NM_000352.6:p.A1330Splc

Associated Papers

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.

Faletra F et al.

Gene, 2013

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.

Proverbio MC et al.

Plos One, 2013

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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."