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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC22A5

Variant:p.R282insFs

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SLC22A5

NM_003060.4:p.R282insFs

hg38:chr5:132387044 C>CG

Associated Papers

The global prevalence and genetic spectrum of primary carnitine deficiency.

Sun L et al.

Bmc Genomic Data, 2025

40624458 (PubMed )

Supplement: 12863_2025_1336_MOESM1_ESM.xlsx › 196

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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."