Varaico: Literature-Extracted Genetic Variants

Gene:CHPT1
Variant:p.V313_V314Splc
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CHPT1

NM_020244.3:p.V313_V314Splc

Associated Papers

Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.

Heslegrave AJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Congenital hyperinsulinism due to mutations in HNF4A and HADH.

Kapoor RR et al.

Reviews in Endocrine & Metabolic Disorders, 2010

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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."