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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP1

Variant:p.E369Q

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STXBP1

NM_001032221.6:p.E369Q

hg38:chr9:127673256 G>C

Associated Papers

Assessing the landscape of STXBP1-related disorders in 534 individuals.

Xian J et al.

Brain : a Journal of Neurology, 2022

35190816 (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."