Associated Papers
Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease.
Kanwal S et al.
Bmc Medical Genomics, 2021
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.
Maroofian R et al.
Neurology. Genetics, 2019
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.
Schottmann G et al.
Neurology. Genetics, 2015
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