A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findings

ARHGAP42 encodes Rho GTPase activating protein 42 that belongs to a member of the GTPase Regulator Associated with Focal Adhesion Kinase (GRAF) family. ARHGAP42 is involved in blood pressure control by regulating vascular tone. Despite these findings, disorders of human variants in the coding part o...

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Detalles Bibliográficos
Autores principales: Li, Qifei, Dibus, Michal, Casey, Alicia, Yee, Christina S. K., Vargas, Sara O., Luo, Shiyu, Rosen, Samantha M., Madden, Jill A., Genetti, Casie A., Brabek, Jan, Brownstein, Catherine A., Kazerounian, Shideh, Raby, Benjamin A., Schmitz-Abe, Klaus, Kennedy, John C., Fishman, Martha P., Mullen, Mary P., Taylor, Joan M., Rosel, Daniel, Agrawal, Pankaj B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289122/
https://www.ncbi.nlm.nih.gov/pubmed/34232960
http://dx.doi.org/10.1371/journal.pgen.1009639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289122/
https://www.ncbi.nlm.nih.gov/pubmed/34232960
http://dx.doi.org/10.1371/journal.pgen.1009639

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