Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.G221D
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SGCE

NM_003919.3:p.G221D

Associated Papers

Detection of a new deleterious SGCE gene variant in Moroccan family with inherited myoclonus-dystonia.

Chbel F et al.

Clinical Case Reports, 2022

Population Prevalence of Deleterious SGCE Variants.

LeDoux MS

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

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

Peall KJ et al.

Journal of Neurology, 2014

MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.

Mort M et al.

Genome Biology, 2014

24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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