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From Genotype to Phenotype: Clinical Assessment and Participant Perspective of a Secondary Genomic Finding Associated with Long QT Syndrome

Genomic variants associated with inherited cardiac conditions yet detected incidentally (‘secondary findings’) are likely to arise with increasing frequency as genome sequencing transitions into clinical practice. Since genotyping has until recently been directed by clinical diagnosis, assessment an...

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Pubblicato in:Circ Genom Precis Med
Autori principali: Mackley, Michael, McGuire, Karen, Taylor, Jenny, Watkins, Hugh, Ormondroyd, Elizabeth
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6217934/
https://ncbi.nlm.nih.gov/pubmed/30354302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGEN.118.002316
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