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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STXBP1

Variant:p.G544delFs

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STXBP1

NM_001032221.6:p.G544delFs

hg38:chr9:127682484 TG>T

Associated Papers

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.

Abramov D et al.

Journal of Neurochemistry, 2021

32643187 (PubMed )

Supplement: supplement_1.pdf

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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."