Varaico: Literature-Extracted Genetic Variants

Gene:TANC2
Variant:p.A183Splc
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TANC2

NM_025185.4:p.A183Splc

Associated Papers

De novo TANC2 variants caused developmental and epileptic encephalopathy and epilepsy.

Luo S et al.

Epilepsia, 2025

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H et al.

Nature Communications, 2019

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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."