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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS18

Variant:p.I117N

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RPS18

NM_022551.3:p.I117N

hg38:chr6:33276234 T>A

Associated Papers

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Tyfield L et al.

Human Mutation, 1999

10408771 (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."