Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.

Large-scale sequencing efforts have captured a rapidly growing catalogue of genetic variations. However, the accurate establishment of gene variant pathogenicity remains a central challenge in translating personal genomics information to clinical decisions. Interferon Regulatory Factor 6 (IRF6) gene...

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Bibliographic Details
Main Authors: Edward B Li, Dawn Truong, Shawn A Hallett, Kusumika Mukherjee, Brian C Schutte, Eric C Liao
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2017-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5628943?pdf=render