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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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer International Publishing 2018
Konular:
Online Erişim: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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