Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A8
Variant:p.Y69F
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SLC30A8

NM_173851.3:p.Y69F

Associated Papers

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Corbett MA et al.

Epilepsia, 2023

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.

van den Ende T et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.

Cen ZD et al.

Seizure, 2016

Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.

Cen ZD et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2015

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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."