Varaico: Literature-Extracted Genetic Variants

Gene:ABCG2
Variant:p.R230Splc
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ABCG2

NM_004827.3:p.R230Splc

Associated Papers

Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort.

Toyoda Y et al.

Cells, 2019

Functional non-synonymous variants of ABCG2 and gout risk.

Stiburkova B et al.

Rheumatology (oxford, England), 2017

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

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