Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.K73_K74insFs
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HIBCH

NM_014362.4:p.K73_K74insFs

Associated Papers

[3-Hydroxy-isobutyryl-CoA hydrolase deficiency in a child with Leigh-like syndrome and literature review].

Zhu H et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Ferdinandusse S et al.

Orphanet Journal of Rare Diseases, 2013

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration.

Loupatty FJ et al.

American Journal of Human Genetics, 2007

Effect of a 5-mo nutritional intervention on nutritional status and quality of life for patient with 3-hydroxyisobutyryl-coenzyme A hydrolase deficiency: A case report.

Li CW et al.

Nutrition (burbank, Los Angeles County, Calif.), 0

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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."