Varaico: Literature-Extracted Genetic Variants

Gene:STX1B
Variant:p.C144F
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STX1B

NM_052874.5:p.C144F

Associated Papers

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.

Spoto G et al.

Frontiers in Neurology, 2022

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Galer PD et al.

American Journal of Human Genetics, 2020

32853554 (PubMed )
Supplement: mmc2.xlsx › S6

Clinical spectrum of STX1B-related epileptic disorders.

Wolking S et al.

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."