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
Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.
Stover DA et al.
Genes, 2022
35205228 (PubMed )
Supplement: genes-13-00183-s001.zip › Stover_et_al_GENES_COL1A1_Supp_Tables_S1-S18_final.xlsx › Table_S2._DAMs
COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing.
Barnes AM et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019
Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.
Wang Y et al.
Plos One, 2015
Select a paper to view details