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    Detailed info

    Owner: tosi-lab Position: exon 8 HAEUID: 42
    Nucleotide change Protein change
    Traditional: 16858C>G Traditional: Pro467Arg
    HUGO: g.18040C>G HUGO: p.Pro489Arg
    CDS: c.1466C>G Effect: pathogenic
    Reference: Verpy et al., 1995; 95:350-359
    Family history: positive No. of cases: 0
    Notes: Method: Chemical cleavage of mismatch followed by sequencing. Not secreted

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