Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.W391*
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SLC22A5

NM_003060.4:p.W391*

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

Newborn Screening and Genetic Analysis Identify Six Novel Genetic Variants for Primary Carnitine Deficiency in Ningbo Area, China.

Yang X et al.

Frontiers in Genetics, 2021

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