Mutation Details for c.53+2594a>A
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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.53+2594a>A
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Exon or Intron
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Other Details
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Contributors and Institutes
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| El-Seedy A., Pasquet M.C., EL Komy M., Ladeveze V., Kitzis A. | - | Laboratoire de Genetique Moleculaire, CHU de Poitiers, France |
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Submitted Phenotype Details
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Egyptian Female had 3 month child died from sever Dyspnea
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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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