Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.M1V
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SPR

NM_003124.5:p.M1V

Associated Papers

Retrospective chart review of inherited and idiopathic dystonia.

Alakkas A et al.

Frontiers in Genetics, 2025

Sepiapterin Reductase Deficiency Misdiagnosed as Neurological Sequelae of Meningitis.

Engin Erdal A et al.

Molecular Syndromology, 2024

6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.

Almannai M et al.

Pediatric Neurology, 2019

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."