Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a prelimi...
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced in obtaining a correct and timely diagnosis. According to Orphanet, 72.5% of RD have a genetic origin although 35% of them do not yet have an identified causative gene. A significant proportion of pati...
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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
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TN_cdi_proquest_miscellaneous_2886601395
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2886601395
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1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-023-01486-7
