#genetic variants — top 20, last 30d
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Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I.
(linkinghub.elsevier.com)
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American Journal of Human Genetics 2026-10-06 | #mucopolysaccharidosis #retinitis pigmentosa #genetic variants #lysosomal-storage #enzyme-activity |