Varaico: Literature-Extracted Genetic Variants

Gene:TSFM
Variant:p.L136_L137delFs
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TSFM

NM_005726.6:p.L136_L137delFs

Associated Papers

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement.

Perli E et al.

Scientific Reports, 2019

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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."