Variant: rs864622194 

    present in Gene: RAB9B;PLP1
    present in Chromosome: X
    Position on Chromosome: 103776997
    Alleles of this Variant: T/C;G

rs864622194 in RAB9B;PLP1 gene and Dysmorphic features PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 7541901 1995 The proteolipid protein gene.

PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

rs864622194 in RAB9B;PLP1 gene and Muscle hypotonia PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 7541901 1995 The proteolipid protein gene.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.