Associated Papers
Genetic and clinical characteristics of Japanese cystinuria with exon and exon-intron boundary variants.
Sakamoto S et al.
Scientific Reports, 2025
Mechanisms involved in aminoacidurias: impacts of genetic and environmental factors.
Ajayi JA et al.
Current Research in Physiology, 2025
Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience.
Jeong JY et al.
Biomedicines, 2023
Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability.
Lee B et al.
Urolithiasis, 2023
Genotype and Phenotype Analysis in Pediatric Patients with Cystinuria.
Kim JH et al.
Journal of Korean Medical Science, 2017
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