Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.P2425_L2426ins1
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MTOR

NM_004958.4:p.P2425_L2426ins1

Associated Papers

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Coleman M et al.

Brain Communications, 2025

39926610 (PubMed )
Supplement: fcaf034_supplementary_data.pdf

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.

Xu Y et al.

Molecular Genetics & Genomic Medicine, 2022

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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."