Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Urbizu, Aintzane ; Garrett, Melanie E ; Soldano, Karen ; Drechsel, Oliver ; Loth, Dorothy ; Marcé-Grau, Anna ; Mestres Soler, Olga ; Poca, María A ; Ossowski, Stephan ; Macaya, Alfons ; Loth, Francis ; Labuda, Rick ; Ashley-Koch, Allison

Public Library of Science (PLoS) 2021

Texto completo disponível