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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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Detalhes bibliográficos
Publicado no:Dis Model Mech
Main Authors: Farr, Gist H., Imani, Kimia, Pouv, Darren, Maves, Lisa
Formato: Artigo
Idioma:Inglês
Publicado em: The Company of Biologists Ltd 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6215422/
https://ncbi.nlm.nih.gov/pubmed/30355621
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.035972
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