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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP1

Variant:p.E352K

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STXBP1

NM_001032221.6:p.E352K

hg38:chr9:127673205 G>A

Associated Papers

SNARE assembly enlightened by cryo-EM structures of a synaptobrevin-Munc18-1-syntaxin-1 complex.

Stepien KP et al.

Science Advances, 2022

35731863 (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."