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    Detailed info

    Owner: Wuerzburg Position: exon 2 HAEUID: 208
    Nucleotide change Protein change
    Traditional: 587A>G Traditional: Met-22Val
    HUGO: g. HUGO: p.Met1Val
    CDS: c.1A>G Effect: pathogenic
    Reference: G÷▀wein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
    Family history: sporadic (negative) No. of cases: 0
    Notes: Found in 9 members of 4 families

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