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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WWTR1

Variant:p.P13_V20delFs

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WWTR1

NM_015472.6:p.P13_V20delFs

hg38:chr3:149657246 TGACGTGGATCACTTGCTGCCCA>T

Associated Papers

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

Borna NN et al.

Journal of Human Genetics, 2017

28123175 (PubMed )

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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."