Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.E317_L318Splc
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SLC22A5

NM_003060.4:p.E317_L318Splc

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

Phenotypic and molecular features of Thai patients with primary carnitine deficiency.

Liammongkolkul S et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2023

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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."