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
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2021
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Monin ML et al.
Orphanet Journal of Rare Diseases, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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