Varaico: Literature-Extracted Genetic Variants

Gene:WWTR1
Variant:p.L94L
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WWTR1

NM_015472.6:p.L94L

Associated Papers

A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathy.

Borna NN et al.

Journal of Human Genetics, 2017

Novel mutations in the TAZ gene in patients with Barth syndrome.

Mazurová S et al.

Prague Medical Report, 2013

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T et al.

Journal of Inherited Metabolic Disease, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."