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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TJP1

Variant:p.Y1191F

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TJP1

NM_001330239.4:p.Y1191F

hg38:chr15:29718570 T>A

Associated Papers

Nephrin ectodomain engagement results in Src kinase activation, nephrin phosphorylation, Nck recruitment, and actin polymerization.

Verma R et al.

The Journal of Clinical Investigation, 2006

16543952 (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."