Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC30
Variant:p.W8*
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DNAJC30

NM_032317.3:p.W8*

Associated Papers

Autosomal Recessive Leber Hereditary Optic Neuropathy Triggered by Superior Mesenteric Artery Syndrome.

Rajagopalan A et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2025

A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes.

Shen C et al.

Genes & Diseases, 2023

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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."