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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2018
Fag:
Research
Online adgang: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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