Varaico: Literature-Extracted Genetic Variants

Gene:SOX5
Variant:p.Q362P
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SOX5

NM_006940.6:p.Q362P

Associated Papers

Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment.

Li A et al.

Human Molecular Genetics, 2017

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP et al.

Human Mutation, 2013

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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."