Mutation Details for c.3229_3230delCT
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cDNA Name
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c.3229_3230delCT
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Protein Name
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p.Leu1077ValfsX78
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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3359delCT
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Other Details
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Mercier B,
Guillermit H
1992-04-27
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Institute
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Centre de Transfusion Snaguine et de Biogénétique
Brest, France
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Submitted Phenotype Details
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The French CF patient (female, deceased) was diagnosed at birth with meconium ileus. (pers.corr. Ferec)
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Reference
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Mercier et al. 1993b & NL#45
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