NR5A1
NM_004959.5:p.L230R
Mönig I et al.
Endocrine, 2022
Fabbri-Scallet H et al.
Human Mutation, 2020
Werner R et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015