Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.E130_I131Splc
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SGCE

NM_003919.3:p.E130_I131Splc

Associated Papers

Population Prevalence of Deleterious SGCE Variants.

LeDoux MS

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2020

33200041 (PubMed )
Supplement: tohm-10-1-567-s1.pdf

Familial cortical tremor with epilepsy and cerebellar pathological findings.

van Rootselaar AF et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2004

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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."