Article

Familial SYN1 Pathogenic Mutations Related Neurodevelopmental Disorders in Asian Pediatric Patients

2021-01-12

Abstract excerpt

<h4>Background: </h4> SYN1 encodes synapsin I, which is a neuronal phosphoprotein in relation to the membranes of small synaptic vesicles. Pathogenic variants in the gene have been confirmed as genetic causes of neurodevelopmental disorders. <h4>Methods: </h4>: In our study, we collected clinical information of two male probands with intellectual disability, and performed whole exome sequencing on both patients an...

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Literature Corpus work: e5c3d1a9-095e-52ab-8031-babb86887240
DOI: 10.21203/rs.3.rs-141619/v1

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