Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.L92delFs
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GCH1

NM_000161.3:p.L92delFs

Associated Papers

Novel Aspects of Hereditary Spastic Paraplegia: A Clinicopathologic and Biochemical Study of a Patient With a Heterozygous GCH1 Variant.

Hongo S et al.

Neuropathology and Applied Neurobiology, 2025

Recognizing Atypical Dopa-Responsive Dystonia and Its Mimics.

Salles PA et al.

Neurology. Clinical Practice, 2021

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Schneider SA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

Mencacci NE et al.

Brain : a Journal of Neurology, 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."