Variant: rs61750428 

    present in Gene: GATAD1;PEX1
    present in Chromosome: 7
    Position on Chromosome: 92494331
    Alleles of this Variant: G/A;T

rs61750428 in GATAD1;PEX1 gene and HEIMLER SYNDROME 1 PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

rs61750428 in GATAD1;PEX1 gene and Infantile Refsum Disease (disorder) PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

rs61750428 in GATAD1;PEX1 gene and PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) PMID 12402331 2002 Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

rs61750428 in GATAD1;PEX1 gene and Peroxisome biogenesis disorders PMID 19105186 2009 Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.