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Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility

28 Aug 2025

Abstract excerpt

BACKGROUND: Nuclear receptors, including steroidogenic factor 1 (NR5A1/SF1) and the androgen receptor (AR), are transcription factors regulating physiological processes, e.g., reproduction. Pathogenic variants in these receptors are associated with a broad spectrum of phenotypes, ranging from differences in sexual development to isolated male infertility. However, standardised methods to classify variants of...

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PMID: 40882352
DOI: 10.1016/j.ebiom.2025.105899

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