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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2018
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| Materias: | |
| 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 |