Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

Lord, J. orcid.org/0000-0002-0539-9343, Oquendo, C.J., Wai, H.A. et al. (11 more authors) (2024) Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants. Genetics in Medicine, 26 (12). 101249. ISSN 1098-3600

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Item Type: Article
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© 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Keywords: clinical genetic testing; genomics; rare disorders; recessive disorders
Dates:
  • Published: December 2024
  • Published (online): 3 September 2024
  • Accepted: 30 August 2024
  • Submitted: 10 March 2024
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health
Depositing User: Symplectic Sheffield
Date Deposited: 09 Oct 2024 11:45
Last Modified: 29 Oct 2024 14:46
Status: Published
Publisher: Elsevier BV
Refereed: Yes
Identification Number: 10.1016/j.gim.2024.101249
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Sustainable Development Goals:
  • Sustainable Development Goals: Goal 3: Good Health and Well-Being
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