Associated Papers
Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.
Sun H et al.
Ebiomedicine, 2025
40347836 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_7
Six Chinese patients with propionic acidemia: from asymptomatic to death in the neonatal period.
Wang S et al.
Orphanet Journal of Rare Diseases, 2025
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.
Usha Devi R et al.
European Journal of Medical Genetics, 2021
Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.
Rivera-Barahona A et al.
Molecular Genetics and Metabolism, 2018
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