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2 Result(s)
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Miriam Kessi
Gene Expression
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Article
Open AccessGenotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China.
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Article
Open AccessFamilial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients
SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...
