Varaico: Literature-Extracted Genetic Variants

Gene:TACR1
Variant:p.V247I
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TACR1

NM_001058.4:p.V247I

Associated Papers

Clinical and Genetic Heterogeneity in a Cohort of Chinese Children With Dopa-Responsive Dystonia.

Chen Y et al.

Frontiers in Pediatrics, 2020

Dopa-responsive dystonia in Chinese patients: Including a novel heterozygous mutation in the GCH1 gene with an intermediate phenotype and one case of prenatal diagnosis.

Zhang W et al.

Neuroscience Letters, 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."