Varaico: Literature-Extracted Genetic Variants

Gene:HIBCH
Variant:p.G44fs
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HIBCH

NM_014362.4:p.G44fs

Associated Papers

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.

Taura Y et al.

Human Genome Variation, 2023

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.

Baldo MS et al.

Genes, 2023

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome.

Wang J et al.

Frontiers in Pharmacology, 2021

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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."