Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.S53L
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SLC7A7

NM_003982.4:p.S53L

Associated Papers

Immune Dysregulation Mimicking Systemic Lupus Erythematosus in a Patient With Lysinuric Protein Intolerance: Case Report and Review of the Literature.

Contreras JL et al.

Frontiers in Pediatrics, 2021

Prioritization of SNPs in y+LAT-1 culpable of Lysinuric protein intolerance and their mutational impacts using protein-protein docking and molecular dynamics simulation studies.

Gopalakrishnan C et al.

Journal of Cellular Biochemistry, 2019

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Bijarnia-Mahay S et al.

Orphanet Journal of Rare Diseases, 2018

30285816 (PubMed )
Supplement: 13023_2018_908_MOESM1_ESM.xlsx › Sheet1

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Bijarnia-Mahay S et al.

Indian Pediatrics, 2016

Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

Güzel-Ozantürk A et al.

Gene, 2013

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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."