Varaico: Literature-Extracted Genetic Variants

Gene:CPLX1
Variant:p.L128M
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CPLX1

NM_006651.4:p.L128M

Associated Papers

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes.

Ding J et al.

Frontiers in Neurology, 2022

Disorders of synaptic vesicle fusion machinery.

Melland H et al.

Journal of Neurochemistry, 2021

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID.

Redler S et al.

European Journal of Human Genetics : Ejhg, 2017

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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."