Varaico: Literature-Extracted Genetic Variants

Gene:TAFAZZIN
Variant:p.G80R
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TAFAZZIN

NM_000116.5:p.G80R

Associated Papers

T-box family of transcription factor-TBX5, insights in development and disease.

Zhu T et al.

American Journal of Translational Research, 2017

Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.

Al-Qattan MM et al.

Gene, 2015

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf

Barth syndrome mutations that cause tafazzin complex lability.

Claypool SM et al.

The Journal of Cell Biology, 2011

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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."