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    Detailed info

    Owner: MedGenetics-lab Position: exon 3 HAEUID: 316
    Nucleotide change Protein change
    Traditional: 541delC Traditional: p.Pro83Glnfs*43
    HUGO: g. HUGO: p.Pro105Glnfs*43
    CDS: c.314delC Effect: pathogenic
    Reference: Ann Hum Genet. 2014 Mar;78(2):73-82.
    Family history: sporadic (negative) No. of cases: 0
    Notes: DNA sequencing

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