Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.G568Splc
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STXBP1

NM_001032221.6:p.G568Splc

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

Epilepsy Course and Developmental Trajectories in STXBP1-DEE.

Balagura G et al.

Neurology. Genetics, 2022

STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.

Houtman SJ et al.

Frontiers in Physiology, 2021

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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."