Mutation Details for c.1323_1344delGAAAGATATTAATTTCAAGATA

Note: this mutation was submitted but not yet reviewed by our curator.

Protein Name p.Asp443GlufsX19 
Exon or Intron  
Other Details This variant was found in one Azerbaijani patient in homozygous condition 
Contributors and Institutes
Petrova Nika, Kondratyeva Elena, - Research Centre for Medical Genetics, Moscow, Russia,
Submitted Phenotype Details  

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The Database was last updated at Apr 25, 2011