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    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 44
    Nucleotide change Protein change
    Traditional: 16884C>T Traditional: Pro476Ser
    HUGO: g.18066C>T HUGO: p.Pro498Ser
    CDS: c.1493C>T Effect: pathogenic
    Reference: Verpy et al,, J Clin Invest 1995; 95:350-359
    Family history: positive No. of cases: 0
    Notes: Method: Chemical cleavage of mismatch followed by sequencing. Reduced secretion, unable to bind C1s.

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