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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCH1

Variant:p.Q219_M221delFs

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GCH1

NM_000161.3:p.Q219_M221delFs

hg38:chr14:54844105 TTCATTTTC>T

Associated Papers

A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.

Giri S et al.

Journal of Molecular Neuroscience : Mn, 2019

30911941 (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."