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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A12

Variant:p.L315_P317del0

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SLC22A12

NM_144585.4:p.L315_P317del0

hg38:chr11:64598624 CACCCTG>C

Associated Papers

Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.

Stiburkova B et al.

Rheumatology (oxford, England), 2016

26428519 (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."