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treacher-collins [2026/03/16 16:31] – Scott Larsontreacher-collins [2026/03/23 17:47] (current) – [Etiology] Scott Larson
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   * Mutation in the 'treacle' gene (TCOF1; 606847)   * Mutation in the 'treacle' gene (TCOF1; 606847)
   * Gene map locus 5q32-q33.1   * Gene map locus 5q32-q33.1
-  * 35 total reported mutations which represented a detection rate of 60%+  * 35 reported mutations represent a detection rate of 60%
   * Incomplete penetrance and variable expressivity   * Incomplete penetrance and variable expressivity