Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.K265Splc
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STXBP1

NM_001032221.6:p.K265Splc

Associated Papers

Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders.

Wang H et al.

Frontiers in Neurology, 2023

37056358 (PubMed )
Supplement: Table_1.XLSX › 54_canonical
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