Mutation Details for c.586dupG
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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.586dupG
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Protein Name
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p.Ala196GlyfsX62
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Exon or Intron
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Other Details
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Contributors and Institutes
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| BOUDAYA Monia, HADJ FREDJ Sondess, SIALA Hajer, BIBI Amina, MEKKI Chadia,FANEN Pascale and MESSAOUD Taieb | - | |
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Submitted Phenotype Details
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this mutation was identified in a cystic fibrosis girl with chronic diarrhea, recurrent pneumonia and failure to thrive
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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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