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Molecular and phenotypic features of premature ovarian failure (POF) cases in 46,XY DSD families with NR5A1 mutations.

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Figshare2015-12-02 更新2026-04-29 收录
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https://figshare.com/articles/dataset/_Molecular_and_phenotypic_features_of_premature_ovarian_failure_POF_cases_in_46_XY_DSD_families_with_NR5A1_mutations_/804349
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aAll mutations are heterozygous except for c.877G>A (p.D293N).46, XY DSD: 46, XY disorder of sex development; PA: primary amenorrhea; SA: secondary amenorrhea; LBD: ligand binding domain.
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2015-12-02
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