Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.L182insFs
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SLC7A7

NM_003982.4:p.L182insFs

Associated Papers

Lysinuric Protein Intolerance: Not Only a Disorder for Pediatric Nephrologists - Case Report.

Rigoldi M et al.

Nephron, 2025

Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.

Almontashiri NAM et al.

Scientific Reports, 2020

32523032 (PubMed )
Supplement: 41598_2020_66401_MOESM3_ESM.xlsx › Table_S2

Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.

Sperandeo MP et al.

Human Mutation, 2008

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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."