Varaico: Literature-Extracted Genetic Variants

Gene:P2RX2
Variant:p.E278K
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P2RX2

NM_170682.4:p.E278K

Associated Papers

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.

Kang SS et al.

Experimental & Molecular Medicine, 2012

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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."