Varaico: Literature-Extracted Genetic Variants

Gene:ACTN3
Variant:p.Q594*
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ACTN3

NM_001104.4:p.Q594*

Associated Papers

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease.

Liu HX et al.

Chinese Medical Journal, 2018

Identification of seven novel mutations in the factor VIII gene in 18 unrelated Chinese patients with hemophilia A.

Hua BL et al.

Chinese Medical Journal, 2010

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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."