Varaico: Literature-Extracted Genetic Variants

Gene:SYT1
Variant:p.N371K
Back to variants list

SYT1

NM_005639.3:p.N371K

Associated Papers

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Scorrano G et al.

International Journal of Molecular Sciences, 2024

Correlation between evoked neurotransmitter release and adaptive functions in SYT1-associated neurodevelopmental disorder.

Park PY et al.

Ebiomedicine, 2024

Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns.

Huang W et al.

Neurogenetics, 2024

Expanding the genetic and phenotypic spectrum of Baker-Gordon syndrome: a new de novo SYT1 variant.

Cotrina-Vinagre FJ et al.

Journal of Genetics, 2024

Calcium Sensors of Neurotransmitter Release.

Zhou Q

Advances in Neurobiology, 2023

SYT1-Associated Neurodevelopmental Disorder: A Narrative Review.

Riggs E et al.

Children (basel, Switzerland), 2022

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.

Melland H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Molecular Basis for Synaptotagmin-1-Associated Neurodevelopmental Disorder.

Bradberry MM et al.

Neuron, 2020

SYT1-associated neurodevelopmental disorder: a case series.

Baker K et al.

Brain : a Journal of Neurology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."