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Molecular assay reagents intended to identify mutations in the interferon regulatory factor 6 (IRF6) gene, located at chromosome 1q32.3-q41, which encodes for a transcription factor of the interferon regulatory factor (IRF) family. Mutations at this locus have been identified in patients with Van der Woude\'s syndrome (VWS) and popliteal pterygium syndrome (PPS), also known as lip-pit syndrome.
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