Carregant...

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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2018
Matèries:
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!