Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is a vascular disease caused by the defects of ALK1/ACVRL1 receptor signaling. In this study, we evaluated 25 recently identified ACVRL1 missense variants using multiple computational pathogenicity classifiers and experimentally characterized their signal...

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Detalles Bibliográficos
Autores principales: Iwasa, Toru, Urasaki, Akihiro, Kakihana, Yuki, Nagata-Akaho, Nami, Harada, Yukihiro, Takeda, Soichi, Kawamura, Teruhisa, Shiraishi, Isao, Kurosaki, Kenichi, Morisaki, Hiroko, Yamada, Osamu, Nakagawa, Osamu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419700/
https://www.ncbi.nlm.nih.gov/pubmed/37568404
http://dx.doi.org/10.3390/jcm12155002

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