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Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

Pubmed ID: 
29027299
Year: 
2018
Month: 
Jan
Volume: 
39
Issue: 
1
Citation: 
Robevska G, van den Bergen JA, Ohnesorg T, Eggers S, Hanna C, Hersmus R, Thompson EM, Baxendale A, Verge CF, Lafferty AR, Marzuki NS, Santosa A, Listyasari NA, Riedl S, Warne G, Looijenga L, Faradz S, Ayers KL, Sinclair AH. Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. HUMAN MUTATION 39 (1) : 124 - 139(2018) PubMed (Grant IDs: 546517)