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    Detailed info

    Owner: drouet_lab Position: intron 2 HAEUID: 206
    Nucleotide change Protein change
    Traditional: 640A>G Traditional: splicing defect
    HUGO: g.1822A>G HUGO: p.
    CDS: c.51+3A>G Effect: pathogenic
    Reference: Duponchel et al. (Human Mutat 2006 Mar;27(3):295-6)
    Family history: positive No. of cases: 7
    Notes: c.-21C polymorphism (exon 2) contributing to the severity of the disease

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