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Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.

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Bibliographic Details
Title:	Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.
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

Description
ISSN:	1468-6244
DOI:	10.1136/jmg-2025-111334