Varaico: Literature-Extracted Genetic Variants

Gene:SOX9
Variant:p.L278L
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SOX9

NM_000346.4:p.L278L

Associated Papers

Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.

Vogt EC et al.

Human Reproduction (oxford, England), 2024

37953503 (PubMed )
Supplement: dead233_supplementary_data_file_s1.docx

The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans.

Wyrwoll MJ et al.

American Journal of Human Genetics, 2022

36150389 (PubMed )
Supplement: mmc2.pdf
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