Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients.
Lago-Docampo M et al.
Scientific Reports, 2020
Mutations in the regulatory domain of phenylalanine hydroxylase and response to tetrahydrobiopterin.
Wang L et al.
Genetic Testing, 2007
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