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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...
Autores principales: | Li, Edward B., Truong, Dawn, Hallett, Shawn A., Mukherjee, Kusumika, Schutte, Brian C., Liao, Eric C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Materias: | |
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 |
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