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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC6

Variant:p.P474L

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CCDC6

NM_005436.5:p.P474L

hg38:chr10:59792921 G>A

Associated Papers

The National Niemann-Pick Type C1 Disease Database: correlation of lipid profiles, mutations, and biochemical phenotypes.

Garver WS et al.

Journal of Lipid Research, 2010

19744920 (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."