Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension

BACKGROUND: We aimed to provide a set of previously reported PAH‐associated missense and nonsense variants, and evaluate the pathogenicity of those variants. METHODS: The Human Gene Mutation Database, PubMed, and Google Scholar were searched for previously reported PAH‐associated genes and variants....

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Detalles Bibliográficos
Autores principales: Abbasi, Yeganeh, Jabbari, Javad, Jabbari, Reza, Glinge, Charlotte, Izadyar, Seyed Bahador, Spiekerkoetter, Edda, Zamanian, Roham T., Carlsen, Jørn, Tfelt‐Hansen, Jacob
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160702/
https://www.ncbi.nlm.nih.gov/pubmed/30084161
http://dx.doi.org/10.1002/mgg3.452

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