Associated Papers
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Hopkins CE et al.
Genetics in Medicine Open, 2023
38827422 (PubMed )
Supplement: NIHMS1995105-supplement-table.xlsx › Variant_list
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
[Clinical and genetic characteristics of children with STXBP1 encephalopathy].
Cao JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2020
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