Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN4
Variant:p.E1193K
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SPTBN4

NM_020971.3:p.E1193K

Associated Papers

Lysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.

Pascual A et al.

International Journal of Molecular Sciences, 2025

41096722 (PubMed )
Supplement: ijms-26-09454-s001.zip › ijms-3869459-supplementary.pdf
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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."