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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UROD

Variant:p.Q212*

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UROD

NM_000374.5:p.Q212*

hg38:chr1:45014068 C>T

Associated Papers

Biochemical changes and clinical outcomes in 34 patients with classic galactosemia.

Yuzyuk T et al.

Journal of Inherited Metabolic Disease, 2018

29350350 (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."