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    Detailed info

    Owner: Wuerzburg Position: exon 8 HAEUID: 288
    Nucleotide change Protein change
    Traditional: 16772C>T Traditional: Ser438Ser
    HUGO: g. HUGO: p.Ser460Ser
    CDS: c.1380C>T Effect: polymorphism
    Reference: G÷▀wein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
    Family history: sporadic (negative) No. of cases: 0
    Notes: carried by an unaffected father

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