Associated Papers
Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.
Sahli C et al.
Bmc Genomic Data, 2026
Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: implications for cystinosis.
Adda Neggaz L et al.
Bmc Genomic Data, 2025
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
Venkatarangan V et al.
The Journal of Clinical Investigation, 2023
37561577 (PubMed )
Supplement: jci-133-169551-s166.pdf
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2009
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