Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA

por Xiao, Sihao, Kai, Zhentian, Murphy, Daniel, Li, Dongyang, Patel, Dilip, Bielowka, Adrianna M., Bernabeu-Herrero, Maria E., Abdulmogith, Awatif, Mumford, Andrew D., Westbury, Sarah K., Aldred, Micheala A., Vargesson, Neil, Caulfield, Mark J., Shovlin, Claire L.
Publicado 2023

Mutation study of Spanish patients with Hereditary Hemorrhagic Telangiectasia

por Fontalba, Ana, Fernandez-L, Africa, García-Alegria, Eva, Albiñana, Virginia, Garrido-Martin, Eva M, Blanco, Francisco J, Zarrabeitia, Roberto, Perez-Molino, Alfonso, Bernabeu-Herrero, Maria E, Ojeda, Maria-Luisa, Fernandez-Luna, Jose L, Bernabeu, Carmelo, Botella, Luisa M
Publicado 2008