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    Detailed info

    Owner: tosi-lab Position: exon 5 HAEUID: 25
    Nucleotide change Protein change
    Traditional: 8383delC Traditional: frameshift
    HUGO: g.9565delC HUGO: p.Pro248fs
    CDS: c.744delC Effect: pathogenic
    Reference: Verpy et al. (Am J Hum Genet 1996 Aug;59(2):308-19)
    Family history: sporadic (negative) No. of cases: 0
    Notes: Method: FAMA followed by sequencing

    Could be de novo

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