Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.S159fs
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SOX2

NM_003106.4:p.S159fs

Associated Papers

A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.

Kimura-Yoshida A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024

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