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cDNA Name
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c.1388G>T
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Protein Name
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p.Gly463Val
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Exon or Intron
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exon 10
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Other Details
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Two siblings with classic CF. Have GI and respiratory symptoms. Both with positive sweat test.Second mutation is G551D
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Contributors and Institutes
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| Faverio, Luis A. | - | Florida Pediatric Pulmonology – CF Center The Children’s Hospital of SWFL. Fort Myers, Florida |
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Submitted Phenotype Details
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Female sibling is 2y 10/12 months diagnosed after developing FTT. Refer to us for admission after a positive sweat test at age of 7 monthsMale sibling found by NBS. G463V mutation documented by direct sequencing of exon 9
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Reference
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