Work

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

Year: 2023

Type: preprint

Abstract: UNSTRUCTURED 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.

DOI: 10.2196/preprints.49106

Authors: Chen-Han Wilfred Wu, Ethan Tze-Yan Su, David Hoying, Donald Bodner, Fredrick Schumacher

Language: English

Topic: Kidney Stones and Urolithiasis Treatments

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4377237883

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