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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Bibliographic Details
Main Authors: Gist H. Farr, Kimia Imani, Darren Pouv, Lisa Maves
Format: Article
Language:English
Published: The Company of Biologists 2018-10-01
Series:Disease Models & Mechanisms
Subjects:
Pbx
Online Access:http://dmm.biologists.org/content/11/10/dmm035972