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".

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Bibliographic Details
Title: 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".
Authors: Dalgleish R; Division of Genetics and Genome Biology, University of Leicester, University Road, Leicester, LE1 7RH, UK. raymond.dalgleish@leicester.ac.uk.
Source: Human genomics [Hum Genomics] 2026 May 21; Vol. 20 (1). Date of Electronic Publication: 2026 May 21.
Publication Type: Journal Article; Review; Letter
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1479-7364
DOI:10.1186/s40246-026-00990-3