Varaico: Literature-Extracted Genetic Variants

Gene:CNTNAP2
Variant:p.R1288C
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CNTNAP2

NM_014141.6:p.R1288C

Associated Papers

Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.

Checri R et al.

Revue Neurologique, 2025

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

D'Gama AM et al.

Brain Communications, 2025

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.

D'Gama AM et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Genetic characteristics of non-familial epilepsy.

Kang KW et al.

Peerj, 2019

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