Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.D115Splc
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GCH1

NM_000161.3:p.D115Splc

Associated Papers

Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.

Almenabawy N et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

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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."