Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.A175D
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SPR

NM_003124.5:p.A175D

Associated Papers

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

Zech M et al.

Brain : a Journal of Neurology, 2025

39937650 (PubMed )
Supplement: awaf059_supplementary_data.zip › brain-2024-02450-File011.pdf

Novel SPR mutation in first Chinese patient with sepiapterin reductase deficiency: urinary biomarker validation in oldest treated case.

Zheng X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.

Wilson YA et al.

Journal of Child Neurology, 2024

39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_2

BH4-deficient hyperphenylalaninemia in Russia.

Gundorova P et al.

Plos One, 2021

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