Varaico: Literature-Extracted Genetic Variants

Gene:SOX2
Variant:p.R56G
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SOX2

NM_003106.4:p.R56G

Associated Papers

Role of nucleobase-specific interactions in the binding and bending of DNA by human male sex determination factor SRY.

Racca JD et al.

The Journal of Biological Chemistry, 2024

39168182 (PubMed )
Supplement: mmc1.docx

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

Underwood A et al.

Genes, 2023

Novel SOX2 mutation in autosomal dominant cataract-microcornea syndrome.

Lin ZB et al.

Bmc Ophthalmology, 2022

Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.

Amlie-Wolf L et al.

American Journal of Medical Genetics. Part A, 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."