Variant: rs1060500044 

    present in Gene: DNASE1L1;TAZ
    present in Chromosome: X
    Position on Chromosome: 154413249
    Alleles of this Variant: G/A;T

rs1060500044 in DNASE1L1;TAZ gene and 3-Methylglutaconic aciduria type 2 PMID 12032589 2002 Novel missense mutation (R94S) in the TAZ ( G4.5) gene in a Japanese patient with Barth syndrome.

PMID 20812380 2010 Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.

PMID 16548007 2006 X-linked fetal cardiomyopathy caused by a novel mutation in the TAZ gene.

PMID 23656970 2013 Natural history of Barth syndrome: a national cohort study of 22 patients.

PMID 9345098 1997 Mutation characterization and genotype-phenotype correlation in Barth syndrome.