Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.G102R
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SPR

NM_003124.5:p.G102R

Associated Papers

Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

Arrabal L et al.

Neurogenetics, 2011

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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."