Associated Papers
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M et al.
Journal of Inherited Metabolic Disease, 2022
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Zanetti A et al.
The Journal of Molecular Diagnostics : Jmd, 2020
scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data.
Yan Z et al.
Bmc Bioinformatics, 2020
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