Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Brain - ISSN 0006-8950-149:1 (2026) p. 178-193
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Source
- (2024) p.
Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
Source
Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
In-depth characterization of HINT1 pathogenic variants
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HINT1 neuropathy in Lithuania : clinical, genetic, and functional profiling
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Orphanet journal of rare diseases - ISSN 1750-1172-17:1 (2022) p. 1-11