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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCD

Variant:p.R47H

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SCD

NM_005063.5:p.R47H

hg38:chr10:100348176 G>A

Associated Papers

Defective Lysosomal Lipid Catabolism as a Common Pathogenic Mechanism for Dementia.

Lee JY et al.

Neuromolecular Medicine, 2021

33550528 (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."