Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.D385fs
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STXBP1

NM_001032221.6:p.D385fs

Associated Papers

Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.

Qi L et al.

Medicine, 2026

De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.

Li T et al.

Genes, Brain, and Behavior, 2018

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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."