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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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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
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  Data: 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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  Data: <searchLink fieldCode="AU" term="%22Dalgleish+R%22">Dalgleish R</searchLink>; Division of Genetics and Genome Biology, University of Leicester, University Road, Leicester, LE1 7RH, UK. raymond.dalgleish@leicester.ac.uk.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2026 May 21; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 May 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1186/s40246-026-00990-3
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      – Code: eng
        Text: English
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      – TitleFull: 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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            – D: 21
              M: 05
              Text: 2026 May 21
              Type: published
              Y: 2026
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            – TitleFull: Human genomics
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