Varaico: Literature-Extracted Genetic Variants

Gene:ATP7A
Variant:p.Y730F
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ATP7A

NM_000052.7:p.Y730F

Associated Papers

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf
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