Varaico: Literature-Extracted Genetic Variants

Gene:CASQ1
Variant:p.A11T
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CASQ1

NM_001231.5:p.A11T

Associated Papers

Genetic defects are common in myopathies with tubular aggregates.

Gang Q et al.

Annals of Clinical and Translational Neurology, 2022

34908252 (PubMed )
Supplement: ACN3-9-4-s001.docx
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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."