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Phenotype-genotype comorbidity analysis of patients with rare disorders provides insight into their pathological and molecular bases
Genetic and molecular analysis of rare disease is made difficult by the small numbers of affected patients. Phenotypic comorbidity analysis can help rectify this by combining information from individuals with similar phenotypes and looking for overlap in terms of shared genes and underlying function...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7553355/ https://www.ncbi.nlm.nih.gov/pubmed/33001999 http://dx.doi.org/10.1371/journal.pgen.1009054 |