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Disclosure of clinically actionable genetic variants to thoracic aortic dissection biobank participants

BACKGROUND: Disclosure of pathogenic variants to thoracic aortic dissection biobank participants was implemented. The impact and costs, including confirmatory genetic testing in a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory, were evaluated. METHODS: We exome sequenced 240...

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Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: Beil, Adelyn, Hornsby, Whitney, Uhlmann, Wendy R., Aatre, Rajani, Arscott, Patricia, Wolford, Brooke, Eagle, Kim A., Yang, Bo, McNamara, Jennifer, Willer, Cristen, Roberts, J. Scott
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2021
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7923508/
https://ncbi.nlm.nih.gov/pubmed/33648514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00902-5
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