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    Detailed info

    Owner: MedGenetics-lab Position: exon 8 HAEUID: 310
    Nucleotide change Protein change
    Traditional: 1536C>T Traditional: p.Gln415*
    HUGO: g. HUGO: p.Gln437*
    CDS: c.1309C>T Effect: pathogenic
    Reference: Ann Hum Genet. 2014 Mar;78(2):73-82.
    Family history: positive No. of cases: 0
    Notes: DNA sequencing

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