Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.S103C
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SPR

NM_003124.5:p.S103C

Associated Papers

Dopa-responsive dystonia and young-onset parkinsonism in a patient with heterozygous mutation in SPR and PRKN treated with pallidal stimulation.

García-de Soto J et al.

Neurologia, 2025

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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."