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
Review of clinical and molecular variability in autosomal recessive cutis laxa 2A.
Morlino S et al.
American Journal of Medical Genetics. Part A, 2021
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
Fischer B et al.
Human Genetics, 2012
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hucthagowder V et al.
Human Molecular Genetics, 2009
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Jones MA et al.
Molecular Genetics and Metabolism, 0
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