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    Detailed info

    Owner: trascasa-lab Position: exon 8 HAEUID: 7
    Nucleotide change Protein change
    Traditional: 16893T>A Traditional: Stop479Arg
    HUGO: g.18075T>A HUGO: p.Stop501Arg
    CDS: c.1501G>A Effect: pathogenic
    Reference: Blanch A et al (Hum Mutat 2002 Nov 20(5) 405-6)
    Family history: positive No. of cases: 0
    Notes: Direct Sequencing exon 8.
    The mutated protein
    could be as long as 563 aminoacids.

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