Associated Papers
Genetic variants and altered expression of SERPINF1 confer disease susceptibility in patients with otosclerosis.
Singh N et al.
Journal of Human Genetics, 2023
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Analysis of FKBP10, SERPINH1, and SERPINF1 genes in patients with osteogenesis imperfecta.
Barbirato C et al.
Genetics and Molecular Research : Gmr, 2016
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