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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.

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 …

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Bioinformatics
Full text 2026

Mapping pathogen genomics training provision: a structured analysis within a global consortium network

Matimba A, Garson KL, Trovão NS, et al.

<h4>Background</h4>Pathogen genomics plays a central role in infectious disease surveillance and outbreak response. However, information about available training initiatives remains fragmented, limiting visibility into how programmes are structured, delivered, and assessed.<h4>Methods</h4>We conducted a structured survey …

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Bioinformatics