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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAD

Variant:p.Y60H

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CAD

NM_004341.5:p.Y60H

hg38:chr2:27217972 T>C

Associated Papers

Ent3p Is a PtdIns(3,5)P2 effector required for protein sorting to the multivesicular body.

Friant S et al.

Developmental Cell, 2003

12967568 (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."