Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.G126A
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EXOSC3

NM_016042.4:p.G126A

Associated Papers

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Mohassel P et al.

Annals of Clinical and Translational Neurology, 2023

37483011 (PubMed )
Supplement: ACN3-10-1442-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."