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Natural human knockouts and the era of genotype to phenotype

Complete loss of gene function in humans by naturally occurring biallelic loss-of-function mutations (human knockout) is not a new concept. However, the recent identification of human knockouts along the entire spectrum of health and disease by next-generation sequencing promises to unlock their ful...

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Detalles Bibliográficos
Autor principal:	Alkuraya, Fowzan S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Comment
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4448306/ https://www.ncbi.nlm.nih.gov/pubmed/26029266 http://dx.doi.org/10.1186/s13073-015-0173-z

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