Variant: rs61750435 

    present in Gene: PEX10
    present in Chromosome: 1
    Position on Chromosome: 2406791
    Alleles of this Variant: -/T

rs61750435 in PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER) PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

PMID 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

rs61750435 in PEX10 gene and PEROXISOME BIOGENESIS DISORDER 6B PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

PMID 15542397 2004 The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

rs61750435 in PEX10 gene and Peroxisome Biogenesis Disorder, Complementation Group 7 PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 20695019 2010 Mutations in PEX10 are a cause of autosomal recessive ataxia.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.

PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

rs61750435 in PEX10 gene and Peroxisome biogenesis disorders PMID 21031596 2011 Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

PMID 17702006 2007 Zellweger syndrome resulting from maternal isodisomy of chromosome 1.

PMID 10862081 2000 Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.