Varaico: Literature-Extracted Genetic Variants

Gene:SDHAF1
Variant:p.Q10P
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SDHAF1

NM_001042631.3:p.Q10P

Associated Papers

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

Hosseinpour S et al.

Brain & Development, 2024

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Mahdieh N et al.

Scientific Reports, 2021

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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."