Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.E65*
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SGCE

NM_003919.3:p.E65*

Associated Papers

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Arterbery AS et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646824 (PubMed )
Supplement: media-2.xlsx › Table_S6

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

Sobstyl M et al.

Neuromodulation : Journal of the International Neuromodulation Society, 2022

Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.

Koide N et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 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."