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...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
The Company of Biologists
2018-10-01
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Series: | Disease Models & Mechanisms |
Subjects: | |
Online Access: | http://dmm.biologists.org/content/11/10/dmm035972 |