Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.Q847*
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SYNGAP1

NM_006772.3:p.Q847*

Associated Papers

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

Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

Ribeiro-Constante J et al.

Frontiers in Cell and Developmental Biology, 2024

38505260 (PubMed )
Supplement: DataSheet1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."