Varaico: Literature-Extracted Genetic Variants

Gene:SOX8
Variant:p.R141Splc
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SOX8

NM_014587.5:p.R141Splc

Associated Papers

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Warman-Chardon J et al.

Neurology. Genetics, 2023

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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."