Varaico: Literature-Extracted Genetic Variants

Gene:HADH
Variant:p.K95fs
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HADH

NM_005327.7:p.K95fs

Associated Papers

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.

Flanagan SE et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Severe dietary protein sensitivity and hyperinsulinemic hypoglycemia in a patient with heterozygous mutation in HADH gene.

Kaur S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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."