Varaico: Literature-Extracted Genetic Variants

Gene:SOX11
Variant:p.R106G
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SOX11

NM_003108.4:p.R106G

Associated Papers

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Al-Jawahiri R et al.

Genetics in Medicine : Official Journal of the American College 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."