Variant: rs879253869 

    present in Gene: PMP2
    present in Chromosome: 8
    Position on Chromosome: 81444935
    Alleles of this Variant: A/T

rs879253869 in PMP2 gene and CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G PMID 30249361 2018 Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.

PMID 27009151 2016 De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

PMID 26828946 2016 A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

rs879253869 in PMP2 gene and Peripheral Neuropathy PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.