Varaico: Literature-Extracted Genetic Variants

Gene:SOX3
Variant:p.M1V
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SOX3

NM_005634.3:p.M1V

Associated Papers

Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic Insights.

Ghalamkari S et al.

American Journal of Medical Genetics. Part A, 2025

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

Madeira JL et al.

Clinical Endocrinology, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."