Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.H105P
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ABCC8

NM_000352.6:p.H105P

Associated Papers

Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China

Xu A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by ¹⁸F-DOPA-PET/CT scan.

Zhang W et al.

Gene, 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."