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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.3154T>G
cDNA Name
c.3154T>G
Protein Name
p.Phe1052Val
Exon or Intron
exon 20
Legacy Exon or Intron
exon 17b
Legacy Name
F1052V
Other Details
Contributors
Mercier Ferec 1993-01-01
Institute
Phenotype Information
CFTR2
Reference
Mercier et al. 1993b
To check if there are any papers published about this mutation/variant on PubMed, please
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Literature referencing this mutation. Sort by:
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Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.
Gelfi C, Righetti PG, Cremonesi L, Ferrari M Detection of point mutations by capillary electrophoresis in liquid polymers in temporal thermal gradients. 1994 012;15(12):1506-11
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The Database was last updated at Apr 25, 2011
