#genetic variants — Friday, September 11, 2026 (1 items)
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Molecular basis of mucopolysaccharidosis IVA in a large cohort: genotype-phenotype correlations and reporting of 12 novel GALNS variants.
(academic.oup.com)
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Human Molecular Genetics 2026-09-11 | #lysosomal storage disease #genotype-phenotype-correlation #genetic variants #protein structure |