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
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
Liu Y et al.
Journal of Human Genetics, 2019
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
Kim JC et al.
Molecular Genetics and Metabolism, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D et al.
Nature Genetics, 2012
Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.
Pinales BE et al.
Differentiation; Research in Biological Diversity, 0
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