Associated Papers
Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population.
Feng H et al.
Orphanet Journal of Rare Diseases, 2024
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Fiorentino A et al.
Human Mutation, 2018
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Maruyama K et al.
Brain & Development, 2016
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