Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.
Ngiwsara L et al.
Annals of Human Genetics, 2025
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
Takiguchi K et al.
Journal of Human Genetics, 2000
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