Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.I30delFs
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SLC22A5

NM_003060.4:p.I30delFs

Associated Papers

A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.

Jia A et al.

Pharmacogenomics and Personalized Medicine, 2023

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."