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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCH1

Variant:p.E243delFs

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GCH1

NM_000161.3:p.E243delFs

hg38:chr14:54844040 AC>A

Associated Papers

A new mutation of GCH1 in triplets family with dopa-responsive dystonia.

Tachi N et al.

European Journal of Neurology, 2011

21834904 (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."