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    Detailed info

    Owner: trascasa-lab Position: exon 8 HAEUID: 6
    Nucleotide change Protein change
    Traditional: 16870G>A Traditional: Gly471Glu
    HUGO: g.18052G>A HUGO: p.Gly493Glu
    CDS: c.1478G>A Effect: pathogenic
    Reference: Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6)
    Family history: positive No. of cases: 0
    Notes: Direct sequencing exon 8
    Note of tordai-lab (2004-03-07): Also found in one Hungarian family (Kalmar L et al (Hum Mutat 2003 Dec;22(6):498);14635117)

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