Variant: rs727504327

present in Gene: DNASE1L1;TAZ present in Chromosome: X Position on Chromosome: 154413544 Alleles of this Variant: G/A

rs727504327 in DNASE1L1;TAZ gene and 3-Methylglutaconic aciduria type 2 PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.

PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.

rs727504327 in DNASE1L1;TAZ gene and Cardiomyopathy, Dilated PMID 21300850 2011 Barth syndrome mutations that cause tafazzin complex lability.

PMID 11238270 2001 Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome.