Protein informatics combined with multiple data sources enriches the clinical characterization of novel TRPV4 variant causing an intermediate skeletal dysplasia

BACKGROUND: Transient receptor potential cation channel subfamily V member 4 (TRPV4) is an ion channel permeable to Ca(2+) that is sensitive to physical, hormonal, and chemical stimuli. This protein is expressed in many cell types, including osteoclasts, chondrocytes, and sensory neurons. As such, p...

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Detalles Bibliográficos
Autores principales: Hines, Stephanie L., Richter, John E., Mohammad, Ahmed N., Mahim, Jain, Atwal, Paldeep S., Caulfield, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418443/
https://www.ncbi.nlm.nih.gov/pubmed/30693671
http://dx.doi.org/10.1002/mgg3.566

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418443/
https://www.ncbi.nlm.nih.gov/pubmed/30693671
http://dx.doi.org/10.1002/mgg3.566

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