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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFAF5

Variant:p.N335_N336delFs

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NDUFAF5

NM_024120.5:p.N335_N336delFs

hg38:chr20:13817173 TAAAC>T

Associated Papers

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

36580434 (PubMed )

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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."