Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L291P
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STXBP1

NM_001032221.6:p.L291P

Associated Papers

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4

STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?

Lanoue V et al.

Neurology, 2019

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