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
Impaired Coenzyme A metabolism affects histone and tubulin acetylation in Drosophila and human cell models of pantothenate kinase associated neurodegeneration.
Siudeja K et al.
Embo Molecular Medicine, 2011
21998097 (PubMed )
Supplement: emmm0003-0755-SD1.pdf
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.
Hayflick SJ et al.
The New England Journal of Medicine, 2003
A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome.
Zhou B et al.
Nature Genetics, 2001
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