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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GMPS

Variant:p.K346_I347Splc

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GMPS

NM_003875.3:p.K346_I347Splc

hg38:chr3:155916018 G>A

Associated Papers

Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl.

Chen BC et al.

Brain & Development, 2014

24055166 (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."