Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.
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| Title: | Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience. |
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| Authors: | Supari N; Division of Clinical Medicine, The University of Sheffield School of Medicine and Population Health, Sheffield, UK., Baker D; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Keigwin S; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Delaney S; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Makino S; Connective Tissue Disorders Service, Sheffield Diagnostic Genetics Service, Sheffield Children's Hospital, Sheffield, UK., Balasubramanian M; Division of Clinical Medicine, The University of Sheffield School of Medicine and Population Health, Sheffield, UK m.balasubramanian@sheffield.ac.uk.; Sheffield Clinical Genomics Service, The University of Sheffield, Sheffield, UK.; Sheffield Children's NHS Foundation Trust, Sheffield, UK. |
| Source: | Journal of medical genetics [J Med Genet] 2026 Apr 20; Vol. 63 (5), pp. 277-283. Date of Electronic Publication: 2026 Apr 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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