A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development (vol 25, pg 3446, 2016)
Anu Bashamboo, Patricia A. Donohoue,Eric Vilain,Sandra Rojo,Pierre Calvel,Sumudu N. Seneviratne,Federica Buonocore,Hayk Barseghyan,Nathan Bingham,Jill A. Rosenfeld,Surya Narayan Mulukutla,Mahim Jain,Lindsay Burrage,Shweta Dhar,Ashok Balasubramanyam,Brendan Lee,Marie-Charlotte Dumargne,Caroline Eozenou,Jenifer P. Suntharalingham,K. S. H. de Silva,Lin Lin,Joelle Bignon-Topalovic,Francis Poulat,Carlos F. Lagos,Ken McElreavey,John C. Achermann HUMAN MOLECULAR GENETICS(2016)
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