Varaico: Literature-Extracted Genetic Variants

Gene:DCTN4
Variant:p.P175delFs
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DCTN4

NM_016221.4:p.P175delFs

Associated Papers

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Nunes Campos L et al.

Cureus, 2024

Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).

Ripolone M et al.

Neuropathology and Applied Neurobiology, 2018

Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness.

Johnson K et al.

Orphanet Journal of Rare Diseases, 2017

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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."