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ACO2 clinicobiological dataset with extensive phenotype ontology annotation

Pathogenic variants of the aconitase 2 gene (ACO2) are responsible for a broad clinical spectrum involving optic nerve degeneration, ranging from isolated optic neuropathy with recessive or dominant inheritance, to complex neurodegenerative syndromes with recessive transmission. We created the first...

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Detalles Bibliográficos
Autores principales:	Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2021
Materias:	Data Descriptor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8342444/ https://www.ncbi.nlm.nih.gov/pubmed/34354088 http://dx.doi.org/10.1038/s41597-021-00984-x

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