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    Detailed info

    Owner: tordai-lab Position: intron 3 HAEUID: 145
    Nucleotide change Protein change
    Traditional: 2696_2697insT Traditional: Splicing defect
    HUGO: g.3878_3879insT HUGO: p.-
    CDS: c.550+2_550+3insT Effect: pathogenic
    Reference: Kalmar L et al (Hum Mutat 2003 Dec;22(6):498)
    Family history: positive No. of cases: 0
    Notes: ND

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