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
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Puusepp S et al.
Molecular Genetics and Metabolism Reports, 2020
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