Varaico: Literature-Extracted Genetic Variants

Gene:VPS13A
Variant:p.R3026Splc
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VPS13A

NM_033305.3:p.R3026Splc

Associated Papers

A Novel VPS13A Deletion in VPS13A Disease (Chorea-Acanthocytosis): A Case Report with Brief Literature Summary.

Perrone B et al.

International Journal of Molecular Sciences, 2025

41373679 (PubMed )
Supplement: ijms-26-11521-s001.zip › ijms-3917049-supplementary.pdf

Defective mitochondrial and lysosomal trafficking in chorea-acanthocytosis is independent of Src-kinase signaling.

Glaß H et al.

Molecular and Cellular Neurosciences, 2018

Alterations of red cell membrane properties in neuroacanthocytosis.

Siegl C et al.

Plos One, 2013

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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."