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) 

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The Database was last updated at Apr 25, 2011