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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLB1

Variant:p.E478Q

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PLB1

NM_153021.5:p.E478Q

hg38:chr2:28573304 G>C

Associated Papers

The collagen receptor uPARAP/Endo180 regulates collectins through unique structural elements in its FNII domain.

Nørregaard KS et al.

The Journal of Biological Chemistry, 2020

32424040 (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."