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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
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Mouse CFTR Genomic Sequence
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Mutation Details for c.43_44insT
cDNA Name
c.43_44insT
Protein Name
p.Ser18GlnfsX27
Exon or Intron
exon 1
Legacy Exon or Intron
exon 1
Legacy Name
175insT
Other Details
Contributors
Schwartz M, Larsen P, Palle AL, Vedel 1993-11-05
Institute
Section of Clinical Genetics Copenhagen, Denmar
Submitted Phenotype Details
Reference
Schwartz et al. (NL#59)
To check if there are any papers published about this mutation/variant on PubMed, please
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The Database was last updated at Apr 25, 2011
