Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.L79_S80del0
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GCH1

NM_000161.3:p.L79_S80del0

Associated Papers

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.

Batllori M et al.

Scientific Reports, 2017

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1.

Jung-Klawitter S et al.

Stem Cell Research, 2017

Dyskinesias as a limiting factor in the treatment of Segawa disease.

López-Laso E et al.

Pediatric Neurology, 2012

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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."