Associated Papers
Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of COL2A1 (c.1266+2T>A) in an Adult with Kniest Dysplasia: A Case Report.
Sawamura K et al.
Molecular Syndromology, 2025
Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.
Markova T et al.
Genes, 2022
Select a paper to view details