Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R292S
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STXBP1

NM_001032221.6:p.R292S

Associated Papers

Yield of Genetic Testing in Children with Autism Spectrum Disorder - A Single-Center Experience.

Arora K et al.

Annals of Indian Academy of Neurology, 2025

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
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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."