Mutation Details for c.2620-24c>G

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

cDNA Name c.2620-24c>G 
Exon or Intron  
Other Details  
Contributors and Institutes
Myrto Poulou, Maria Tzetis - Department of Medical Genetics, Athens Universit
Submitted Phenotype Details This change was identified with DGGE and direct sequencing in a women presenting with echogenic bowel at the second trimester of pregnancy. No other mutation identified after screening the whole coding sequence 

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The Database was last updated at Apr 25, 2011