Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.R137H
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SGCE

NM_003919.3:p.R137H

Associated Papers

Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.

Atasu B et al.

Journal of Medical Genetics, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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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."