Varaico: Literature-Extracted Genetic Variants

Gene:MTOR
Variant:p.A1459S
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MTOR

NM_004958.4:p.A1459S

Associated Papers

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia.

Lee WS et al.

Epilepsia Open, 2023

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Lai A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.

Marsan E et al.

Neuropathology and Applied Neurobiology, 2018

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.

Møller RS et al.

Neurology. Genetics, 2016

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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."