Varaico: Literature-Extracted Genetic Variants

Gene:SPR
Variant:p.E2*
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SPR

NM_003124.5:p.E2*

Associated Papers

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Thöny B et al.

Human Mutation, 1997

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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."