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Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects

Whole-genome and exome sequencing efforts are increasingly identifying candidate genetic variants associated with human disease. However, predicting and testing the pathogenicity of a genetic variant remains challenging. Genome editing allows for the rigorous functional testing of human genetic vari...

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Detalles Bibliográficos
Autores principales:	Farr, Gist H., Imani, Kimia, Pouv, Darren, Maves, Lisa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Company of Biologists Ltd 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215422/ https://www.ncbi.nlm.nih.gov/pubmed/30355621 http://dx.doi.org/10.1242/dmm.035972

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