Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D234Y
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STXBP1

NM_001032221.6:p.D234Y

Associated Papers

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.

Barcia G et al.

Epilepsia Open, 2025

40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS

Mutations of chronic granulomatous disease in Turkish families.

Köker MY et al.

European Journal of Clinical Investigation, 2007

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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."