Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF5
Variant:p.W8*
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NDUFAF5

NM_024120.5:p.W8*

Associated Papers

Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy.

Pandya BU et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024

Cognitive Impairment in Phenotypic Leber Hereditary Optic Neuropathy Caused by Mutation in Nuclear Gene NDUFAF5.

Chen J et al.

Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024

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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."