Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.R282P
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SLC22A5

NM_003060.4:p.R282P

Associated Papers

The global prevalence and genetic spectrum of primary carnitine deficiency.

Sun L et al.

Bmc Genomic Data, 2025

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
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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."