Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.Y84Y
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SLC22A5

NM_003060.4:p.Y84Y

Associated Papers

Newborn screening for fatty acid oxidation disorders in a southern Chinese population.

Lin Y et al.

Heliyon, 2024

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.

Xiao G et al.

Frontiers in Genetics, 2024

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
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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."