Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.A112P
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SOX4

NM_003107.3:p.A112P

Associated Papers

Landscape of Constitutional SOX4 Variation in Human Disorders.

Grippa M et al.

Genes, 2024

Novel Variants of SOX4 in Patients with Intellectual Disability.

Grosse M et al.

International Journal of Molecular Sciences, 2023

Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.

Underwood A et al.

Genes, 2023

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

Angelozzi M et al.

Journal of Medical Genetics, 2022

Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability.

Ghaffar A et al.

European Journal of Human Genetics : Ejhg, 2022

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Zawerton A et al.

American Journal of Human Genetics, 2019

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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."