Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.P199delFs
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GCH1

NM_000161.3:p.P199delFs

Associated Papers

[A novel mutation in GCH1 gene causes dopa-responsive dystonia].

Wu W et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014

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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."