Associated Papers
Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.
Cheema H et al.
Npj Genomic Medicine, 2020
33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
Gupta D et al.
European Journal of Medical Genetics, 2015
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S et al.
Molecular Genetics and Metabolism, 2008
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