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Variants Affecting Exon Skipping Contribute to Complex Traits

DNA variants that affect alternative splicing and the relative quantities of different gene transcripts have been shown to be risk alleles for some Mendelian diseases. However, for complex traits characterized by a low odds ratio for any single contributing variant, very few studies have investigate...

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Detalles Bibliográficos
Autores principales: Lee, Younghee, Gamazon, Eric R., Rebman, Ellen, Lee, Yeunsook, Lee, Sanghyuk, Dolan, M. Eileen, Cox, Nancy J., Lussier, Yves A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3486879/
https://www.ncbi.nlm.nih.gov/pubmed/23133393
http://dx.doi.org/10.1371/journal.pgen.1002998