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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX1B

Variant:p.S239F

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STX1B

NM_052874.5:p.S239F

hg38:chr16:30993200 G>A

Associated Papers

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

37066095 (PubMed )

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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."