Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.L79_K82delFs
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EXOSC3

NM_016042.4:p.L79_K82delFs

Associated Papers

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

Alila-Fersi O et al.

Journal of Molecular Neuroscience : Mn, 2020

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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."