Varaico: Literature-Extracted Genetic Variants

Gene:ISCU
Variant:p.E128Q
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ISCU

NM_213595.4:p.E128Q

Associated Papers

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.

Nordin A et al.

Human Genetics, 2011

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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."