Varaico: Literature-Extracted Genetic Variants

Gene:TANC2
Variant:p.Q1441*
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TANC2

NM_025185.4:p.Q1441*

Associated Papers

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

Luo S et al.

Epilepsia, 2025

Generation of an induced pluripotent stem cell line (GWCMCi005-A) from a patient with Lennox-Gastaut syndrome carrying TANC2 Gln1441Ter mutation.

Tian Y et al.

Stem Cell Research, 2022

Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report.

Tian Y et al.

Bmc Pediatrics, 2021

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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."