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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
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The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016 05; 18(5):443-51.
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PubMed
subject areas
Adult
Age of Onset
Charcot-Marie-Tooth Disease
Child, Preschool
Comparative Genomic Hybridization
DNA Copy Number Variations
Exome
Female
Genetic Predisposition to Disease
GTP Phosphohydrolases
High-Throughput Nucleotide Sequencing
Humans
Male
Mitochondrial Proteins
Motor Neurons
Myelin P0 Protein
Myelin Proteins
Neural Conduction
Polymorphism, Single Nucleotide
Polyneuropathies
authors with profiles
RICHARD GIBBS
JAMES LUPSKI
DONNA MUZNY
DAVUT PEHLIVAN