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Prevalence of clinically actionable disease variants in exceptionally long-lived families
BACKGROUND: Phenotypic expression of pathogenic variants in individuals with no family history of inherited disorders remains unclear. METHODS: We evaluated the prevalence of pathogenic variants in 25 genes associated with Mendelian-inherited disorders in 3015 participants from 485 families in the L...
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| Publicado no: | BMC Med Genomics |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7146901/ https://ncbi.nlm.nih.gov/pubmed/32272925 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-0710-5 |
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