Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.W124R
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SPR

NM_003124.5:p.W124R

Associated Papers

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

Sepiapterin reductase deficiency: Report of 5 new cases.

AlSubhi S et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017

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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."