Associated Papers
A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
Wang Y et al.
Heliyon, 2024
Systemic Lupus Erythematosus and Hereditary Coproporphyria: Two Different Entities Diagnosed by WES in the Same Patient.
Liu A et al.
Biomed Research International, 2022
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
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 2010
20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys
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