Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model

Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene...

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Detalles Bibliográficos
Autores principales: Li, Edward B., Truong, Dawn, Hallett, Shawn A., Mukherjee, Kusumika, Schutte, Brian C., Liao, Eric C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628943/
https://www.ncbi.nlm.nih.gov/pubmed/28945736
http://dx.doi.org/10.1371/journal.pgen.1007009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5628943/
https://www.ncbi.nlm.nih.gov/pubmed/28945736
http://dx.doi.org/10.1371/journal.pgen.1007009

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