Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
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In-depth characterization of HINT1 pathogenic variants
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HINT1 neuropathy in Lithuania : clinical, genetic, and functional profiling
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Towards a better understanding of HINT1 neuropathy : genetic and functional profiling
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