Full text 2026

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"

Dalgleish R.

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Abstract

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.

Keywords

Protein Structure Modelling Variant Nomenclature