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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/195296a2e17347d9a874041f568137b7
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spelling	oai:doaj.org-article:195296a2e17347d9a874041f568137b72021-12-02T14:53:43ZACO2 clinicobiological dataset with extensive phenotype ontology annotation10.1038/s41597-021-00984-x2052-4463https://doaj.org/article/195296a2e17347d9a874041f568137b72021-08-01T00:00:00Zhttps://doi.org/10.1038/s41597-021-00984-xhttps://doaj.org/toc/2052-4463Measurement(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.13574528Khadidja GuehlouzThomas FoulonneauPatrizia Amati-BonneauMajida CharifEstelle ColinCéline BrisValérie Desquiret-DumasDan MileaPhilippe GohierVincent ProcaccioDominique BonneauJohan T. den DunnenGuy LenaersPascal ReynierMarc FerréNature PortfolioarticleScienceQENScientific Data, Vol 8, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 ACO2 clinicobiological dataset with extensive phenotype ontology annotation
description	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
format	article
author	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
author_facet	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
author_sort	Khadidja Guehlouz
title	ACO2 clinicobiological dataset with extensive phenotype ontology annotation
title_short	ACO2 clinicobiological dataset with extensive phenotype ontology annotation
title_full	ACO2 clinicobiological dataset with extensive phenotype ontology annotation
title_fullStr	ACO2 clinicobiological dataset with extensive phenotype ontology annotation
title_full_unstemmed	ACO2 clinicobiological dataset with extensive phenotype ontology annotation
title_sort	aco2 clinicobiological dataset with extensive phenotype ontology annotation
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/195296a2e17347d9a874041f568137b7
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ACO2 clinicobiological dataset with extensive phenotype ontology annotation

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