Variant: rs1085307797 

    present in Gene: TAZ
    present in Chromosome: X
    Position on Chromosome: 154420094
    Alleles of this Variant: G/A

rs1085307797 in TAZ gene and 3-Methylglutaconic aciduria type 2 PMID 24887148 2014 Cardiomyopathy in a male patient with neutropenia and growth delay.

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

PMID 9382096 1997 The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

PMID 16880272 2006 Mitochondrial mislocalization and altered assembly of a cluster of Barth syndrome mutant tafazzins.

PMID 23361305 2013 Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.