Associated Papers
Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.
Baxter LL et al.
Scientific Reports, 2022
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
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