MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases

Diagnosing mitochondrial disorders remains challenging. This is partly because the clinical phenotypes of patients overlap with those of other sporadic and inherited disorders. Although the widespread availability of genetic testing has increased the rate of diagnosis, the combination of phenotypic...

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Detalles Bibliográficos
Autores principales: Ratnaike, Thiloka E, Greene, Daniel, Wei, Wei, Sanchis-Juan, Alba, Schon, Katherine R, van den Ameele, Jelle, Raymond, Lucy, Horvath, Rita, Turro, Ernest, Chinnery, Patrick F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Data Resources and Analyses
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8464050/
https://www.ncbi.nlm.nih.gov/pubmed/34428295
http://dx.doi.org/10.1093/nar/gkab726

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8464050/
https://www.ncbi.nlm.nih.gov/pubmed/34428295
http://dx.doi.org/10.1093/nar/gkab726

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