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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
1992
Phenotype
CF
Proband
Yes
Phenotype:
Age at diagnosis
Death
Symptoms
Pancreatic status
ST value(s)
Meconium ileus
NBS
9 y
Unknown
Unknown
Unknown
Unknown
N
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