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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCH1

Variant:p.T209Splc

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GCH1

NM_000161.3:p.T209Splc

hg38:chr14:54845766 A>T

Associated Papers

Deep brain stimulation shows high efficacy in two patients with GCH1 variants.

Daida K et al.

Parkinsonism & Related Disorders, 2019

31178337 (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."