Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.A400T
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NR5A1

NM_004959.5:p.A400T

Associated Papers

Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.

Abseyi SN et al.

Journal of Endocrinological Investigation, 2025

Understanding the Mechanisms of Diminished Ovarian Reserve: Insights from Genetic Variants and Regulatory Factors.

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 2024

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
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