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Computer-assisted initial diagnosis of rare diseases
Introduction. Most documented rare diseases have genetic origin. Because of their low individual frequency, an initial diagnosis based on phenotypic symptoms is not always easy, as practitioners might never have been exposed to patients suffering from the relevant disease. It is thus important to de...
Autores principales: | Alves, Rui, Piñol, Marc, Vilaplana, Jordi, Teixidó, Ivan, Cruz, Joaquim, Comas, Jorge, Vilaprinyo, Ester, Sorribas, Albert, Solsona, Francesc |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PeerJ Inc.
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4963223/ https://www.ncbi.nlm.nih.gov/pubmed/27547534 http://dx.doi.org/10.7717/peerj.2211 |
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