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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPS2

Variant:p.H193L

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PRPS2

NM_002765.5:p.H193L

hg38:chrX:12819554 A>T

Associated Papers

Association of PRPS1 Mutations with Disease Phenotypes.

Mittal R et al.

Disease Markers, 2015

26089585 (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."