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    Detailed info

    Owner: tosi-lab Position: exon 3 HAEUID: 21
    Nucleotide change Protein change
    Traditional: 2694G>A Traditional: splicing defect or Gly162Arg
    HUGO: g.3876G>A HUGO: p.Gly184Arg
    CDS: c.550G>A Effect: pathogenic
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: sporadic (negative) No. of cases: 3
    Notes:
    Method: FAMA followed by sequencing

    Recurrent mutation
    found de novo

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