Associated Papers
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
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Npj Genomic Medicine, 2024
39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants
Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.
Salam MAE et al.
Annals of Human Genetics, 2023
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