Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.A243_A248del6
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SOX3

NM_005634.3:p.A243_A248del6

Associated Papers

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

Alatzoglou KS et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

A SOX3 (Xq26.3-27.3) duplication in a boy with growth hormone deficiency, ocular dyspraxia, and intellectual disability: a long-term follow-up and literature review.

Stagi S et al.

Hormones (athens, Greece), 0

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