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PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases

BACKGROUND: Thoroughly annotated data resources are a key requirement in phenotype dependent analysis and diagnosis of diseases in the area of precision medicine. Recent work has shown that curation and systematic annotation of human phenome data can significantly improve the quality and selectivity...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Adler, Angela, Kirchmeier, Pia, Reinhard, Julian, Brauner, Barbara, Dunger, Irmtraud, Fobo, Gisela, Frishman, Goar, Montrone, Corinna, Mewes, H.-Werner, Arnold, Matthias, Ruepp, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5785853/
https://ncbi.nlm.nih.gov/pubmed/29370821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0765-y
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