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Substitution
Deletion
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Duplication
Indel
Large alteration
Repeat
Intronic variant
Complex allele
Protein
Nonsense
Missense
Frameshift
Inframe
Silent
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About CFTR-France
CFTR gene and protein
CFTR variations and classification
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Patient's page:
Patient details:
Patient ID
5817
Phenotype
Pending (NBS)
Proband
Yes
Phenotype:
Age at diagnosis
Death
Symptoms
Pancreatic status
ST value(s)
Meconium ileus
NBS
<2 m
N
Unknown
69 (positive)
Y
Y
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