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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCH1

Variant:p.R59delFs

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GCH1

NM_000161.3:p.R59delFs

hg38:chr14:54902488 CG>C

Associated Papers

Genetic updates on paroxysmal dyskinesias.

Liao JY et al.

Journal of Neural Transmission (vienna, Austria : 1996), 2021

33929620 (PubMed )

Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.

Tsao CY

Journal of Child Neurology, 2012

22068827 (PubMed )

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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."