Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann-Pick type C1, and Batten disease.
Scotto Rosato A et al.
Embo Molecular Medicine, 2022
Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort.
Smirnov VM et al.
Jama Ophthalmology, 2021
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findings.
Mizobuchi K et al.
Molecular Genetics & Genomic Medicine, 2020
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