Mutation Details for c.2657+2_2657+3insA
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cDNA Name
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c.2657+2_2657+3insA
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Exon or Intron
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intron 16
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Legacy Exon or Intron
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intron 14b
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2789+2insA
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Other Details
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The mutation was detected by DGGE and identified by direct sequencing. It was found in a CAVD patient with [delta]F508.
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Contributors
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Dubourg C,
Jezequel P,
Blayau M
1998-04-10
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Institute
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University of Rennes I
France
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Phenotype Information
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CFTR2
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Reference
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Dubourg et al. (NL#70)
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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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