Varaico: Literature-Extracted Genetic Variants

Gene:LLGL1
Variant:p.G504_C505delFs
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LLGL1

NM_004140.4:p.G504_C505delFs

Associated Papers

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Kassabian B et al.

Epilepsia, 2024

From diagnosis to treatment in genetic epilepsies: Implementation of precision medicine in real-world clinical practice.

De Wachter M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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."