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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP1

Variant:p.V368A

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STXBP1

NM_001032221.6:p.V368A

hg38:chr9:127673254 T>C

Associated Papers

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

Baker K et al.

The Journal of Clinical Investigation, 2015

25705886 (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."