Associated Papers
Recovery of α-L-fucosidase in fucosidosis nonsense variants by readthrough stimulation and release factor degradation.
Bäumges H et al.
Disease Models & Mechanisms, 2026
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
Leonardi E et al.
European Journal of Human Genetics : Ejhg, 2023
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Chkioua L et al.
Bmc Medical Genomics, 2021
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