Varaico: Literature-Extracted Genetic Variants

Gene:SHQ1
Variant:p.R48Splc
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SHQ1

NM_018130.3:p.R48Splc

Associated Papers

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Saparov A et al.

Annals of Neurology, 2026

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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."