Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
van Kuilenburg AB et al.
Biochimica Et Biophysica Acta, 0
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