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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LLGL1

Variant:p.R124insFs

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LLGL1

NM_004140.4:p.R124insFs

hg38:chr17:18232780 C>CG

Associated Papers

Developmental epileptic encephalopathy in DLG4-related synaptopathy.

Kassabian B et al.

Epilepsia, 2024

38135915 (PubMed )

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33597769 (PubMed )

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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."