ACO2 clinicobiological dataset with extensive phenotype ontology annotation

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

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.13...

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Bibliographic Details
Main Authors: 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
Language:English
Published: Nature Publishing Group 2021-08-01
Series:Scientific Data
Online Access:https://doi.org/10.1038/s41597-021-00984-x

Internet

https://doi.org/10.1038/s41597-021-00984-x

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