Re: "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review"
A paper entitled "A novel splice-altering frameshift variant in the COL1A1 gene underlies osteogenesis imperfecta type I: molecular characterization of a four-generation Chinese pedigree and literature review" was recently published in this journal. Unfortunately, it contains a number of errors that the authors should correct. The most serious errors are incorrect sequence variant descriptions and inappropriate use of AI-assisted protein structure prediction.
Authors
- Raymond Dalgleish (ORCID: https://orcid.org/0000-0001-7667-187X)
Institutions
- University of Leicester (GB)
Publication Details
- Journal
- Human Genomics
- Published
- 2026-05-21
- DOI
- https://doi.org/10.1186/s40246-026-00990-3
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00