ACO2 clinicobiological dataset with extensive phenotype ontology annotation

oleh: Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré

Format: Article
Diterbitkan: Nature Portfolio 2021-08-01

Deskripsi

Measurement(s) sequence_variant • Phenotypic variability Technology Type(s) DNA sequencing • Ophthalmologist Factor Type(s) sequence variant • phenotype Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9.figshare.13574528