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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CBFA2T2

Variant:p.S87S

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CBFA2T2

NM_001032999.3:p.S87S

hg38:chr20:33611176 C>A

Associated Papers

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Ho G et al.

Jimd Reports, 2014

24368688 (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."