Varaico: Literature-Extracted Genetic Variants

Gene:NOVA2
Variant:p.P234_A240insFs
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NOVA2

NM_002516.4:p.P234_A240insFs

Associated Papers

NOVA1/2 genes and alternative splicing in neurodevelopment.

Piton A

Current Opinion in Genetics & Development, 2025

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Scala M et al.

Human Mutation, 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."