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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WWTR1

Variant:p.T226_Q231delFs

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WWTR1

NM_015472.6:p.T226_Q231delFs

hg38:chr3:149542414 TGCTGCTGCTGAGTG>T

Associated Papers

New clinical and molecular insights on Barth syndrome.

Ferri L et al.

Orphanet Journal of Rare Diseases, 2013

23409742 (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."