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
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Schobers G et al.
Genome Medicine, 2022
35710456 (PubMed )
Supplement: 13073_2022_1069_MOESM1_ESM.xlsx › Table_S1
A novel mutation in PRPS1 causes X-linked Charcot-Marie-Tooth disease-5.
Meng L et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2019
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