Varaico: Literature-Extracted Genetic Variants

Gene:SYN1
Variant:p.W126R
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SYN1

NM_006950.3:p.W126R

Associated Papers

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

Familial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients.

Xiong J et al.

Bmc Medical Genomics, 2021

Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.

Fernández-Marmiesse A et al.

Frontiers in Neuroscience, 2019

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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."