Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.D6E
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NR5A1

NM_004959.5:p.D6E

Associated Papers

Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).

Teoli J et al.

Frontiers in Endocrinology, 2023

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