Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.P104L
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VCP

NM_007126.5:p.P104L

Associated Papers

Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.

Roos A et al.

Methods in Molecular Biology (clifton, N.j.), 2020

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations.

Ritz D et al.

Nature Cell Biology, 2011

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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."