Mutation Details for c.2620-24c>G
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.2620-24c>G
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Myrto Poulou, Maria Tzetis | - | Department of Medical Genetics, Athens Universit |
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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