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Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
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Medrxiv : the Preprint Server for Health Sciences, 2025
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Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.
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Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study.
Limperger V et al.
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