Associated Papers
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Gau M et al.
Frontiers in Endocrinology, 2022
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G et al.
Human Mutation, 2018
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
27899157 (PubMed )
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