Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P40fs
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GCH1

NM_000161.3:p.P40fs

Associated Papers

Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients.

Ahn TB et al.

Parkinsonism & Related Disorders, 2019

Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia.

Lee JY et al.

Parkinsonism & Related Disorders, 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."