Varaico: Literature-Extracted Genetic Variants

Gene:SOX8
Variant:p.T226P
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SOX8

NM_014587.5:p.T226P

Associated Papers

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Riera-Escamilla A et al.

Human Reproduction Open, 2025

40896145 (PubMed )
Supplement: hoaf049_supplementary_data.zip › HRO-25-0045-R2-SuppTablesS2-S4_and_S6-S9.xlsx › ST4

NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Naamneh Elzenaty R et al.

International Journal of Molecular Sciences, 2024

39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Rjiba K et al.

Reproductive Biology and Endocrinology : Rb&e, 2023

Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.

Martinez de Lapiscina I et al.

Plos One, 2023

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › 20160703_supplemental_data_FINAL_160706.docx
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