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

1 Oct 2018

Abstract excerpt

ABSTRACT 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 variants in animal models. Congenital heart defects (CHDs) are a prominent example of a human disorder with...

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PMID: 30355621
DOI: 10.1242/dmm.035972

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