Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis

Balasubramanian, M. orcid.org/0000-0003-1488-3695, Hobson, E., Skae, M. et al. (2 more authors) (2019) Developing pathways to clarify pathogenicity of unclassified variants in osteogenesis imperfecta genetic analysis. Molecular Genetics & Genomic Medicine. 912.

Abstract

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Authors/Creators:
Copyright, Publisher and Additional Information: © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Keywords: fractures; genetic analysis; osteogenesis imperfecta; targeted gene panel testing; variant of uncertain significance
Dates:
  • Accepted: 22 July 2019
  • Published (online): 30 September 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 21 Oct 2019 08:27
Last Modified: 21 Oct 2019 08:27
Status: Published online
Publisher: Wiley Open Access
Refereed: Yes
Identification Number: https://doi.org/10.1002/mgg3.912

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