Allelic Expression of Deleterious Protein-Coding Variants across Human Tissues

Personal exome and genome sequencing provides access to loss-of-function and rare deleterious alleles whose interpretation is expected to provide insight into individual disease burden. However, for each allele, accurate interpretation of its effect will depend on both its penetrance and the trait&#...

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Detalles Bibliográficos
Autores principales: Kukurba, Kimberly R., Zhang, Rui, Li, Xin, Smith, Kevin S., Knowles, David A., How Tan, Meng, Piskol, Robert, Lek, Monkol, Snyder, Michael, MacArthur, Daniel G., Li, Jin Billy, Montgomery, Stephen B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006732/
https://www.ncbi.nlm.nih.gov/pubmed/24786518
http://dx.doi.org/10.1371/journal.pgen.1004304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006732/
https://www.ncbi.nlm.nih.gov/pubmed/24786518
http://dx.doi.org/10.1371/journal.pgen.1004304

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