Varaico: Literature-Extracted Genetic Variants

Gene:SURF1
Variant:p.N178Y
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SURF1

NM_003172.4:p.N178Y

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

SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.

Li Y et al.

Gene, 2018

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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."