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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DUOXA1

Variant:p.T49_R50Splc

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DUOXA1

NM_001276266.2:p.T49_R50Splc

hg38:chr15:45122863 C>A

Associated Papers

Long-term follow-up of patients with phenylketonuria receiving tetrahydrobiopterin treatment.

Trefz FK et al.

Journal of Inherited Metabolic Disease, 2010

20217238 (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."