Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Homozygous loss of function (HLOF) variants provide a valuable window on gene function in humans, as well as an inventory of the human genes that are not essential for survival and reproduction. All humans carry at least a few HLOF variants, but the exact number of inactivated genes that can be tole...

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Detalles Bibliográficos
Autores principales: Kaiser, Vera B., Svinti, Victoria, Prendergast, James G., Chau, You-Ying, Campbell, Archie, Patarcic, Inga, Barroso, Inês, Joshi, Peter K., Hastie, Nicholas D., Miljkovic, Ana, Taylor, Martin S., Enroth, Stefan, Memari, Yasin, Kolb-Kokocinski, Anja, Wright, Alan F., Gyllensten, Ulf, Durbin, Richard, Rudan, Igor, Campbell, Harry, Polašek, Ozren, Johansson, Åsa, Sauer, Sascha, Porteous, David J., Fraser, Ross M., Drake, Camilla, Vitart, Veronique, Hayward, Caroline, Semple, Colin A., Wilson, James F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572071/
https://www.ncbi.nlm.nih.gov/pubmed/26173456
http://dx.doi.org/10.1093/hmg/ddv272

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