Varaico: Literature-Extracted Genetic Variants

Gene:NSF
Variant:p.A459T
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NSF

NM_006178.4:p.A459T

Associated Papers

Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy.

Hayashi T et al.

Human Molecular Genetics, 2023

De novo NSF mutations cause early infantile epileptic encephalopathy.

Suzuki H et al.

Annals of Clinical and Translational Neurology, 2019

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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."