Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.S77_L82del0
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GCH1

NM_000161.3:p.S77_L82del0

Associated Papers

Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neurons.

Cronin SJF et al.

Biorxiv : the Preprint Server for Biology, 2023

37214873 (PubMed )
Supplement: media-1.pdf

GCH1 mutations in hereditary spastic paraplegia.

Varghaei P et al.

Clinical Genetics, 2021

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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."