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1 in 38 individuals at risk of a dominant medically actionable disease

Clinical genomic sequencing can identify pathogenic variants unrelated to the initial clinical question, but of medical relevance to the patients and their families. With ongoing discussions on the utility of disclosing or searching for such variants, it is of crucial importance to obtain unbiased i...

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Dettagli Bibliografici
Pubblicato in:Eur J Hum Genet
Autori principali: Haer-Wigman, Lonneke, van der Schoot, Vyne, Feenstra, Ilse, Vulto-van Silfhout, Anneke T., Gilissen, Christian, Brunner, Han G., Vissers, Lisenka E. L. M., Yntema, Helger G.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2018
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336841/
https://ncbi.nlm.nih.gov/pubmed/30291343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0284-2
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