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PMID: 42169212 已发表 · epublish 英语

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".

Human genomics ·第 20 卷 ·第 1 期 ·2026-05-21

Dalgleish R

摘要

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.

关键词
Protein structure modelling Variant nomenclature
文献信息
期刊
Human genomics
期刊简称
Hum Genomics
ISSN
1479-7364
发表日期
2026-05-21
语言
英语
国家/地区
England
NLM ID
101202210
分析服务
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