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  • Molecular assay reagents intended to identify mutations in the Treacher Collins-Franceschetti syndrome 1 (TCOF1) gene, located at chromosome 5q32-q33.1, which encodes for a nucleolar protein that is involved in ribosomal DNA gene transcription and may be fundamental in early embryonic development, particularly in development of the craniofacial complex. This inherited genetic mutation has been identified in patients who have Treacher Collins syndrome (TCS).
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