Associated Papers
Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature.
Geerts CJ et al.
Molecular Genetics and Metabolism, 2025
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Sánchez-Monteagudo A et al.
Clinical Genetics, 2020
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