Varaico: Literature-Extracted Genetic Variants

Gene:STX1B
Variant:p.T196K
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STX1B

NM_052874.5:p.T196K

Associated Papers

Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface.

Bagatelas ED et al.

Biorxiv : the Preprint Server for Biology, 2026

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

Melland H et al.

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

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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."