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A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population
The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a single phenotype of a complex syndrome may not meet criteria for clinical diag...
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| Publicado no: | PLoS Genet |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7735621/ https://ncbi.nlm.nih.gov/pubmed/33226994 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008802 |
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