Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.N122D
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SPR

NM_003124.5:p.N122D

Associated Papers

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

Koht J et al.

Acta Neurologica Scandinavica. Supplementum, 2014

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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."