Varaico: Literature-Extracted Genetic Variants

Gene:WWTR1
Variant:p.L48Fs
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WWTR1

NM_015472.6:p.L48Fs

Associated Papers

Natural history of Barth syndrome: a national cohort study of 22 patients.

Rigaud C et al.

Orphanet Journal of Rare Diseases, 2013

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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."