Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.Q66P
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SNAP25

NM_130811.4:p.Q66P

Associated Papers

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.

Klöckner C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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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."