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    Detailed info

    Owner: tosi-lab Position: exon 7 HAEUID: 45
    Nucleotide change Protein change
    Traditional: 14070delA Traditional: frameshift
    HUGO: g.15252delA HUGO: p.Val356fs
    CDS: c.1069delA Effect: pathogenic
    Reference: Pappalardo et al., J Allergy Clin Immunol 2000;106:1147-54
    Family history: sporadic (negative) No. of cases: 0
    Notes: Method: FAMA followed by sequencing. De novo.

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