Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.L134V
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SLC22A5

NM_003060.4:p.L134V

Associated Papers

Primary carnitine deficiency: Estimation of prevalence in Chinese population and insights into newborn screening.

Ji X et al.

Frontiers in Genetics, 2023

38125748 (PubMed )
Supplement: Table1.XLSX › TableS1

Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.

Maguolo A et al.

Molecular Genetics and Metabolism Reports, 2020

32793418 (PubMed )
Supplement: mmc2.xlsx › Foglio1
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