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Currently submitted to: JMIR Preprints

Date Submitted: May 22, 2023

Warning: This is an author submission that is not peer-reviewed or edited. Preprints - unless they show as "accepted" - should not be relied on to guide clinical practice or health-related behavior and should not be reported in news media as established information.

RE: Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

  • Chen-Han Wilfred Wu; 
  • Ethan Tze-Yan Su; 
  • David Hoying; 
  • Donald Bodner; 
  • Fredrick Schumacher

ABSTRACT

Previously, Thorleifsson et al. published a paper on Nature Genetics titled "Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density" which did not use standard HGVS nomenclature to report their data, causing confusion among the genetics community. In this paper, we proposed to re-represent the data complying with HGVS standards. More specifically, to report all variants using the forwards strand.


 Citation

Please cite as:

Wu CHW, Su ETY, Hoying D, Bodner D, Schumacher F

RE: Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

JMIR Preprints. 22/05/2023:49106

DOI: 10.2196/preprints.49106

URL: https://preprints.jmir.org/preprint/49106

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