Varaico: Literature-Extracted Genetic Variants

Gene:HADH
Variant:p.K206delFs
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HADH

NM_005327.7:p.K206delFs

Associated Papers

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Hopkins JJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism

Razzaghy-Azar M et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.

Senniappan S et al.

Bmc Research Notes, 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."