Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.R88W
Back to variants list

SPR

NM_003124.5:p.R88W

Associated Papers

Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.

Mastrangelo M et al.

Genes, 2023

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B et al.

Human Mutation, 1997

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.

Ichinose H et al.

Nature Genetics, 1994

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."