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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EFCAB6

Variant:p.K169_V170Splc

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EFCAB6

NM_022785.4:p.K169_V170Splc

hg38:chr22:43735994 C>G

Associated Papers

Causes of Parkinson's disease: genetics of DJ-1.

Abou-Sleiman PM et al.

Cell and Tissue Research, 2004

15503154 (PubMed )

Linking DJ-1 to neurodegeneration offers novel insights for understanding the pathogenesis of Parkinson's disease.

Bonifati V et al.

Journal of Molecular Medicine (berlin, Germany), 2004

14712351 (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."