Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.R59P
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SNAP25

NM_130811.4:p.R59P

Associated Papers

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

Disorders of synaptic vesicle fusion machinery.

Melland H et al.

Journal of Neurochemistry, 2021

Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies.

Alten B et al.

Neuron, 2021

Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy.

Praschberger R et al.

Neuron, 2021

SNAP-25 Puts SNAREs at Center Stage in Metabolic Disease.

Irfan M et al.

Neuroscience, 2019

Neuronal SNARE complex: A protein folding system with intricate protein-protein interactions, and its common neuropathological hallmark, SNAP25.

Karmakar S et al.

Neurochemistry International, 2019

A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.

Fukuda H et al.

Journal of Human Genetics, 2018

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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."