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    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 43
    Nucleotide change Protein change
    Traditional: 16872C>T Traditional: Arg472Stop
    HUGO: g.18054C>T HUGO: p.Arg492Stop
    CDS: c.1480C>T Effect: pathogenic
    Reference: Verpy et al., 1995; 95:350-359
    Family history: positive No. of cases: 2
    Notes: Method: Chemical cleavage of mismatch followed by sequencing. Not secreted. Also found as a likely de novo mutation
    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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