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Improving Disease Gene Prioritization by Comparing the Semantic Similarity of Phenotypes in Mice with Those of Human Diseases

Despite considerable progress in understanding the molecular origins of hereditary human diseases, the molecular basis of several thousand genetic diseases still remains unknown. High-throughput phenotype studies are underway to systematically assess the phenotype outcome of targeted mutations in mo...

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Autori principali: Oellrich, Anika, Hoehndorf, Robert, Gkoutos, Georgios V., Rebholz-Schuhmann, Dietrich
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3375301/
https://ncbi.nlm.nih.gov/pubmed/22719993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0038937
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