Varaico: Literature-Extracted Genetic Variants

Gene:SYN1
Variant:p.R176Splc
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SYN1

NM_006950.3:p.R176Splc

Associated Papers

Electro-Clinical Features and Functional Connectivity Analysis in SYN1-Related Epilepsy.

Moya Quiros V et al.

Annals of Neurology, 2024

SYN1 variant causes X-linked neurodevelopmental disorders: a case report of variable clinical phenotypes in siblings.

Ren B et al.

Frontiers in Neurology, 2024

The different clinical facets of SYN1-related neurodevelopmental disorders.

Parenti I et al.

Frontiers in Cell and Developmental Biology, 2022

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.

Accogli A et al.

Neurology, 2021

Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.

Xiong J et al.

Bmc Medical Genomics, 2021

Hot water epilepsy and SYN1 variants.

Peron A et al.

Epilepsia, 2018

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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."