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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UPK3B

Variant:p.T106M

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UPK3B

NM_001347684.2:p.T106M

hg38:chr7:76511738 C>T

Associated Papers

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

Thöny B et al.

Human Mutation, 1997

9222755 (PubMed )

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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."