Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.P133fs
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NR5A1

NM_004959.5:p.P133fs

Associated Papers

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )
Supplement: mmc1.pdf

Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development.

Xia J et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."