Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.A601E
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SYNGAP1

NM_006772.3:p.A601E

Associated Papers

Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.

Wiltrout K et al.

Epilepsia, 2024

Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic.

Thomas BR et al.

Epilepsy & Behavior : E&b, 2024

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
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