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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEKHA8

Variant:p.R18L

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PLEKHA8

NM_001197026.2:p.R18L

hg38:chr7:30045097 G>T

Associated Papers

Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi.

D'Angelo G et al.

Nature, 2013

23913272 (PubMed )

Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide.

D'Angelo G et al.

Nature, 2007

17687330 (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."