Variant: rs141138948 

    present in Gene: EXOSC3
    present in Chromosome: 9
    Position on Chromosome: 37783993
    Alleles of this Variant: T/C;G

rs141138948 in EXOSC3 gene and Muscle hypotonia PMID 11110791 2001 Three novel components of the human exosome.

PMID 8147499 1994 Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.

PMID 23284067 2013 Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations.

PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

PMID 24524299 2014 EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

PMID 23883322 2013 Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma.

PMID 23564332 2013 We identified a homozygous mutation [c.395A > C/p.D132A] in EXOSC3 in four patients with muscle hypotonia, developmental delay, spinal anterior horn involvement, and prolonged survival, consistent with the "mild PCH1 phenotype".

rs141138948 in EXOSC3 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 1B PMID 29656927 2018 Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.

PMID 23975261 2013 Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

PMID 22544365 2012 Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.

PMID 24524299 2014 EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

PMID 23564332 2013 EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement.