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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELAVL1

Variant:p.H227L

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ELAVL1

NM_001419.3:p.H227L

hg38:chr19:7963784 T>A

Associated Papers

MBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.

Caengprasath N et al.

Journal of Translational Medicine, 2021

33743732 (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."