Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.S347*
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SOX4

NM_003107.3:p.S347*

Associated Papers

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

Landscape of Constitutional SOX4 Variation in Human Disorders.

Grippa M et al.

Genes, 2024

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Angelozzi M et al.

Journal of Medical Genetics, 2022

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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."