Associated Papers
The Spectra of Pathogenic Variants and Phenotypes in a Chinese Cohort of 298 Families with Osteogenesis Imperfecta.
Zhou S et al.
Genes, 2025
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.
Singh N et al.
Journal of Human Genetics, 2023
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