Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.I128M
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NDUFS8

NM_002496.4:p.I128M

Associated Papers

A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.

Hosseinpour S et al.

Brain & Development, 2024

High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.

Ashrafi M et al.

Neurogenetics, 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."