Last updated on May 20, 2013

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1 unique mutation(s) annotated from 1 PubMed(s)
Sl.No Mutation type Genomic level change CDS level change RNA level change Protein level change Mutation effects Expt. name PubMed Mutation viewer
1  Substitution    g.1099C>T    c.100C>T    -   p.Arg34Trp   Missense defects   Direct sequencing   Walne AJ et al., 2007 
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