Varaico: Literature-Extracted Genetic Variants

Gene:SMARCA4
Variant:p.L1222V
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SMARCA4

NM_003072.5:p.L1222V

Associated Papers

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Smits DJ et al.

European Journal of Human Genetics : Ejhg, 2025

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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."