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    Detailed info

    Owner: Wuerzburg Position: intron 6 HAEUID: 284
    Nucleotide change Protein change
    Traditional: 8865_8868delAAGT Traditional: Splicing defect
    HUGO: g. HUGO: p.
    CDS: c.1029+3_1029+6delAAGT Effect: unknown
    Reference: G÷▀wein et al. (Cytogenet Genome Res 2008; 121(3-4):181-8)
    Family history: positive No. of cases: 0
    Notes: 2 members of 1 familiy

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