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Article

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

PLoS genetics - 1 Sept 2017

Li Edward B, Truong Dawn, Hallett Shawn A, Mukherjee Kusumika, Schutte Brian C, Liao Eric C

Abstract excerpt

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 variants are significant genetic contributors to orofacial clefts. Although approximately three hundred IRF6 gene...

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Identifiers

PMID: 28945736
DOI: 10.1371/journal.pgen.1007009
PMCID: PMC5628943

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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