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    Detailed info

    Owner: Rijavec-Golnik Position: exon 3 HAEUID: 321
    Nucleotide change Protein change
    Traditional: 2212_2213delAT Traditional: Frameshift
    HUGO: g.3394_3395delAT HUGO: p.Asn25fs
    CDS: c.74_75delAT Effect: pathogenic
    Reference: Karadza-Lapic et al. (Annals of Medicine 2016)
    Family history: positive No. of cases: 0
    Notes: ND

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