Submitted Phenotype Details
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It changes an asparagine to a lysine at amino acid 900 of the protein. This mutation was found in a third generation Venezuelan female patient carrying the WT allele on the other chromosome. The patient has a confused phenotype with late onset of disease (11 years old), but has low body weight. She has had two border line sweat chloride tests (40 and 39 mmol/L).
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