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    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 37
    Nucleotide change Protein change
    Traditional: 16809G>A Traditional: Val451Met
    HUGO: g.17991G>A HUGO: p.Val473Met
    CDS: c.1417G>A Effect: pathogenic
    Reference: Verpy et al. 1995;95:350-359
    Family history: positive No. of cases: 0
    Notes: Method: FAMA followed by sequencing
    Reduced secretion and defective binding to C1s. See also Eldering et al. J Biol Chem 1995;270:2579-2587

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