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
Is 5-Oxoprolinase Deficiency More than Just a Benign Condition?
Kasapkara ÇS et al.
Molecular Syndromology, 2024
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 2023
36980993 (PubMed )
Supplement: genes-14-00721-s001.zip › genes-2217247-supplementary.pdf
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO et al.
Molecular Genetics and Metabolism, 2016
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