Varaico: Literature-Extracted Genetic Variants

Gene:SON
Variant:p.L993V
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SON

NM_138927.4:p.L993V

Associated Papers

The Diagnostic and Therapeutic Challenges of Schaaf-Yang Syndrome: A Brazilian Case Report.

Dos Santos HM et al.

Journal of Child Neurology, 2026

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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."