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||RNA component of mitochondrial RNA processing endoribonuclease|
|Associated with diseases
||CHH, Anauxetic dysplasia, dysplasia, metaphyseal, without hypotrichosis|
||Ridanpää et al. 2001|
|Total number of public variants reported
|Unique public DNA variants reported
|Individuals with public variants
||Only mutations associated with Cartilage-hair hypoplasia (MIM#250250) are shown in this database (mutations may also cause Anauxetic dysplasia, MIM#607095, or Metaphyseal dysplasia without hypotrichosis, MIM#250460).|
The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
This database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66).
||June 27, 2012|
|Date last updated
||May 05, 2017|
|Copyright & disclaimer|
|The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.|
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