Varaico: Literature-Extracted Genetic Variants

Gene:HADH
Variant:p.I184F
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HADH

NM_005327.7:p.I184F

Associated Papers

Molecular Characterization and Management of Congenital Hyperinsulinism: A Tertiary Centre Experience.

Sharma R et al.

Indian Pediatrics, 2022

34992182 (PubMed )
Supplement: 13312_2022_2438_MOESM1_ESM.pdf

Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.

Velasco K et al.

Journal of Inherited Metabolic Disease, 2021

Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.

Satapathy AK et al.

Indian Pediatrics, 2016

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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."