Clan Genomics: from OMIM phenotypic traits to genes and biology
Clinical characterization of a patient phenotype has been the quintessential approach for elucidating a differential diagnosis and a hypothesis to explore a potential clinical diagnosis. This has resulted in a language of medicine and a semantic ontology, with both specialty- and subspecialty-specif...
Kaydedildi:
| Yazar: | |
|---|---|
| Materyal Türü: | Metin |
| Dil: | İngilizce |
| Baskı/Yayın Bilgisi: |
2021
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| Konular: | |
| Online Erişim: | https://pmc.ncbi.nlm.nih.gov/articles/PMC8530976/ https://pubmed.ncbi.nlm.nih.gov/34405553 http://dx.doi.org/10.1002/ajmg.a.62434 |
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