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An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort

The Viking Health Study Shetland is a population-based research cohort of 2,122 volunteer participants with ancestry from the Shetland Isles in northern Scotland. The high kinship and detailed phenotype data support a range of approaches for associating rare genetic variants, enriched in this isolat...

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Detalles Bibliográficos
Autores principales: Kerr, Shona M., Klaric, Lucija, Halachev, Mihail, Hayward, Caroline, Boutin, Thibaud S., Meynert, Alison M., Semple, Colin A., Tuiskula, Annukka M., Swan, Heikki, Santoyo-Lopez, Javier, Vitart, Veronique, Haley, Chris, Dean, John, Miedzybrodzka, Zosia, Aitman, Timothy J., Wilson, James F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662790/
https://www.ncbi.nlm.nih.gov/pubmed/31358886
http://dx.doi.org/10.1038/s41598-019-47436-6

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