Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.P31L
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SLC22A5

NM_003060.4:p.P31L

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

Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.

Wildin RS et al.

Journal of Personalized Medicine, 2022

36556183 (PubMed )
Supplement: jpm-12-01962-s001.zip › jpm-1983119-supplementary.pdf

Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area.

Zhou W et al.

Frontiers in Pediatrics, 2019

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