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    Detailed info

    Owner: tosi-lab Position: exon 5 HAEUID: 27
    Nucleotide change Protein change
    Traditional: 8455delCAA Traditional: delAsn250
    HUGO: g.9635_9637del HUGO: p.delAsn272
    CDS: c.813_815del Effect: unknown
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: positive No. of cases: 0
    Notes: Method: FAMA followed by sequencing

    Cosegregates with promoter change -40C>G

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