Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates

Whole genome sequencing (WGS) allows the identification of human knockouts (HKOs), individuals in whom loss of function (LoF) variants disrupt both alleles of a given gene. HKOs are a valuable model for understanding the consequences of genes function loss. Naturally occurring biallelic LoF variants...

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Detalles Bibliográficos
Autores principales: Spedicati, Beatrice, Cocca, Massimiliano, Palmisano, Roberto, Faletra, Flavio, Barbieri, Caterina, Francescatto, Margherita, Mezzavilla, Massimo, Morgan, Anna, Pelliccione, Giulia, Gasparini, Paolo, Girotto, Giorgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8384846/
https://www.ncbi.nlm.nih.gov/pubmed/33727708
http://dx.doi.org/10.1038/s41431-021-00850-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8384846/
https://www.ncbi.nlm.nih.gov/pubmed/33727708
http://dx.doi.org/10.1038/s41431-021-00850-9

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