The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome

Sequencing projects have identified large numbers of rare stop-gain and frameshift variants in the human genome. As most of these are observed in the heterozygous state, they test a gene’s tolerance to haploinsufficiency and dominant loss of function. We analyzed the distribution of truncating varia...

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Detalles Bibliográficos
Autores principales: Bartha, István, Rausell, Antonio, McLaren, Paul J., Mohammadi, Pejman, Tardaguila, Manuel, Chaturvedi, Nimisha, Fellay, Jacques, Telenti, Amalio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671652/
https://www.ncbi.nlm.nih.gov/pubmed/26642228
http://dx.doi.org/10.1371/journal.pcbi.1004647

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4671652/
https://www.ncbi.nlm.nih.gov/pubmed/26642228
http://dx.doi.org/10.1371/journal.pcbi.1004647

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