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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:WASHC5

Variant:p.A1049V

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WASHC5

NM_014846.4:p.A1049V

hg38:chr8:125037272 G>A

Associated Papers

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

Clemen CS et al.

Brain : a Journal of Neurology, 2010

20833645 (PubMed )

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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."