Varaico: Literature-Extracted Genetic Variants

Gene:SGCE
Variant:p.K261delFs
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SGCE

NM_003919.3:p.K261delFs

Associated Papers

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.

Thomsen M et al.

Annals of Clinical and Translational Neurology, 2025

40533913 (PubMed )
Supplement: ACN3-12-1648-s002.xlsx › Table_2_-_Pathogenic_vars

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

Thomsen M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677454 (PubMed )
Supplement: media-1.xlsx › Table_2_-_Pathogenic_vars

Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.

Abdul Murad NA et al.

Genes, 2023

36980993 (PubMed )
Supplement: genes-14-00721-s001.zip › genes-2217247-supplementary.pdf

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.

Asmus F et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2009

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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."