A New Case of Mitochondrial RNA Helicase SUPV3L1-Associated Neurodegenerative Disease: Ataxia, Spasticity, Optic Atrophy, and Skin Hypopigmentation (ASOASH)
Genes（2024）
Key words
SUPV3L1,ataxia,spasticity,optic atrophy,hypopigmentation,whole genome sequencing,RNA-analysis
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