Mutation Details for need to get source data
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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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need to get source data
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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-912dupT
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Other Details
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This sequence variation was identified in trans of CFTRdup4-8 (duplication of exons 4 to 8) in the mother of a CF patient. We report it as a polymorphism.
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Contributors
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E. Girodon, F. Niel, C. Costa, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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Healthy individual
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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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