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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EDEM2

Variant:p.D258N

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EDEM2

NM_018217.3:p.D258N

hg38:chr20:35131714 C>T

Associated Papers

EDEM2 and OS-9 are required for ER-associated degradation of non-glycosylated sonic hedgehog.

Tang HY et al.

Plos One, 2014

24910992 (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."