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    Detailed info

    Owner: admin Position: intron 5 HAEUID: 153
    Nucleotide change Protein change
    Traditional: 8722G>A Traditional: Splicing defect
    HUGO: g.9904G>A HUGO: p.-
    CDS: c.890-1G>A Effect: pathogenic
    Reference: Sekijima Y et al (Intern Med. 2004 Mar;43(3):253-5)
    Family history: unknown No. of cases: 0
    Notes: ND

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