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Open access Aug 2026

RC12.3 - LBA_ECE_1400 - Profiling of CYP17A1 mutations defines the molecular basis of partial enzyme deficiencies

To elucidate the pathophysiology of 17-OHD by integrating phenotyping with functional and structural characterization of seven CYP17A1 variants, structural analysis may help predict clinical outcomes and fertility potential in 17-OHD.

Kai-Ge Li, J. Yakubu, Amit V. Pandey · 0 citations

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