Report Dominant Intermediate Charcot-Marie-Tooth Type C Maps to Chromosome 1p34-p35
Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased
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Impact of Autosomal Recessive Juvenile Parkinson's Disease Mutations on the Structure and Interactions of the Parkin Ubiquitin
MFN2 mutation distribution and genotype/ phenotype correlation in Charcot–Marie– Tooth type 2
Genetic Regulation of TMEM106B in the Pathogenesis of Frontotemporal Lobar Degeneration | Semantic Scholar
Molecular genetics of Dravet syndrome
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