Associated Papers
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both COL1A2 and TRPV4.
Evans EF et al.
Jbmr Plus, 2025
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
Ward LM et al.
Human Mutation, 2001
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