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  • Disease-causing variants define a conserved and unique NR5A1 responsive enhancer for SRY expression to initiate testis-determination in humans. Modelling regulatory variants causing sex-reversal provides a tool to understand global enhancer activity.

    • Denis Houzelstein
    • Caroline Eozenou
    • Ken McElreavey
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-12