Varaico: Literature-Extracted Genetic Variants

Gene:ACTN3
Variant:p.E643K
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ACTN3

NM_001104.4:p.E643K

Associated Papers

Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.

Ravaglia S et al.

Journal of Applied Physiology (bethesda, Md. : 1985), 2021

Genotype-phenotype correlation in Pompe disease, a step forward.

De Filippi P et al.

Orphanet Journal of Rare Diseases, 2014

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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."