Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.S19C
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TH

NM_000360.4:p.S19C

Associated Papers

Whole-exome sequencing in a cohort of Chinese patients with isolated cervical dystonia.

Wu R et al.

Heliyon, 2024

Genetic analysis of dystonia-related genes in Parkinson's disease.

Wang Y et al.

Frontiers in Aging Neuroscience, 2023

Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.

Shi WT et al.

Genetics and Molecular Research : Gmr, 2015

GTP cyclohydrolase I and tyrosine hydroxylase gene mutations in familial and sporadic dopa-responsive dystonia patients.

Cai C et al.

Plos One, 2013

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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."