Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.R551G
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STXBP1

NM_001032221.6:p.R551G

Associated Papers

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

Xian J et al.

Brain : a Journal of Neurology, 2022

35190816 (PubMed )
Supplement: awab327_supplementary_data.zip › brain-2021-00642-File011.xlsx › Table_S1_Genotype_Data

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Lanoue V et al.

Neurology, 2019

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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