Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1B
Variant:p.E238insFs
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ATP5F1B

NM_001686.4:p.E238insFs

Associated Papers

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.

Filipe A et al.

Cell Death and Differentiation, 2021

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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."