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    Detailed info

    Owner: tosi-lab Position: promoter HAEUID: 11
    Nucleotide change Protein change
    Traditional: -103C>T Traditional: -
    HUGO: g.1080C>T HUGO: p.-
    CDS: c.- 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
    Potential regulatory mutation; mutation found homozygous in two patients of the same family

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