Varaico: Literature-Extracted Genetic Variants

Gene:WWTR1
Variant:p.L28H
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WWTR1

NM_015472.6:p.L28H

Associated Papers

A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.

Zapała B et al.

Annals of Human Genetics, 2015

Gene symbol: TAZ. Disease: Barth syndrome.

Tikhomirov E et al.

Human Genetics, 2008

Analysis of tafazzin and deoxyribonuclease 1 like 1 transcripts and X chromosome sequencing in the evaluation of the effect of mosaicism in the TAZ gene on phenotypes in a family affected by Barth syndrome.

Płatek T et al.

Mutation Research, 0

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