Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease

Durkie, M., Chong, J., Valluru, M.K. et al. (2 more authors) (2021) Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in Medicine, 23 (4). pp. 689-697. ISSN 1098-3600

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Copyright, Publisher and Additional Information: © 2020 American College of Medical Genetics and Genomics. This is an author-produced version of a paper subsequently published in Genetics in Medicine. Uploaded in accordance with the publisher's self-archiving policy.
Dates:
  • Accepted: 21 October 2020
  • Published (online): 10 November 2020
  • Published: April 2021
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Sheffield Teaching Hospitals
Depositing User: Symplectic Sheffield
Date Deposited: 13 Nov 2020 11:56
Last Modified: 02 Feb 2022 13:31
Status: Published
Publisher: Springer Nature
Refereed: Yes
Identification Number: https://doi.org/10.1038/s41436-020-01026-4
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