Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.Y387C
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SLC22A5

NM_003060.4:p.Y387C

Associated Papers

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

Lin Y et al.

Heliyon, 2024

Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.

Lin Y et al.

Orphanet Journal of Rare Diseases, 2021

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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."