Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G305Splc
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TSC1

NM_000368.5:p.G305Splc

Associated Papers

Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus.

Sobstyl M et al.

Epilepsy & Behavior Reports, 2024

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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."