Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.Q1021*
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SYNGAP1

NM_006772.3:p.Q1021*

Associated Papers

[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].

Wang XL et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023

Efficacy and Safety of Long-Term Treatment with Stiripentol in Children and Adults with Drug-Resistant Epilepsies: A Retrospective Cohort Study of 196 Patients.

Balestrini S et al.

Drugs - Real World Outcomes, 2022

35680739 (PubMed )
Supplement: 40801_2022_305_MOESM1_ESM.pdf

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

Niu Y et al.

Frontiers in Neurology, 2022

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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."