Associated Papers
DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.
Reynolds G et al.
American Journal of Medical Genetics. Part A, 2025
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Kas SM et al.
Scientific Reports, 2023
37848450 (PubMed )
Supplement: 41598_2023_42178_MOESM4_ESM.xlsx › clinvar_result_and_reports
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