Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.P799L
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PKD2

NM_000297.4:p.P799L

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

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

TRPV4-mediated channelopathies.

Verma P et al.

Channels (austin, Tex.), 0

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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."