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ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023

A patient with demyelinating CMT carrying the p.Y347C heterozygous variant of the MME gene and the p.L131F heterozygous variant of the HARS1 gene.

Mattia Parisi et al.PubMed ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 36517691