Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.R176C
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SNAP25

NM_130811.4:p.R176C

Associated Papers

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

Reynolds HM et al.

Cold Spring Harbor Molecular Case Studies, 2022

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Ware TL et al.

Epilepsia Open, 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."