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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
CFTR Domains
Mouse CFTR Genomic Sequence
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Mutation Details for c.379_381dupTTA
cDNA Name
c.379_381dupTTA
Protein Name
p.Leu127dup
Exon or Intron
exon 4
Legacy Exon or Intron
exon 4
Legacy Name
L127dup
Other Details
Contributors
E. Rohlfs
Institute
Submitted Phenotype Details
suspected diagnosis of CF and positive sweat chloride test
Reference
not published
To check if there are any papers published about this mutation/variant on PubMed, please
click here.
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The Database was last updated at Apr 25, 2011
