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    Detailed info

    Owner: trascasa-lab Position: intron 7 HAEUID: 182
    Nucleotide change Protein change
    Traditional: 14252delT Traditional: Val322_Leu394>Asnfs
    HUGO: g.15434delT HUGO: p.Val344_Leu416>Asnfs
    CDS: c.1249+2delT Effect: pathogenic
    Reference: Roche O. et al. (Human Mutation 2005 26(2), 135-144)
    Family history: sporadic (negative) No. of cases: 0
    Notes: Exon 7 skipping

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