Article

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

2018-06-03

Abstract excerpt

Whole-genome and whole-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 complex...

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Literature Corpus work: 3d110139-4bd8-526b-a172-5ede8cb38060
DOI: 10.1101/337832

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