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Advanced filters: Author: Vidar Edvardsson Clear advanced filters

Common and rare variants associated with kidney stones and biochemical traits

Kidney stone formation is influenced by genetic factors and recurrent stone formation places a significant burden on health care systems. Here Oddsson et al.perform a large-scale genome-wide association study and uncover new genetic variants associated with kidney stone susceptibility and associated biochemical traits.

Asmundur Oddsson
Patrick Sulem
Kari Stefansson
ResearchOpen Access14 Aug 2015
Nature Communications

Volume: 6, P: 1-9
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

Gudmar Thorleifsson and colleagues report a genome-wide association study for kidney stones. They report common variants in CLDN14 associated with increased risk of kidney stone disease.

Gudmar Thorleifsson
Hilma Holm
Kari Stefansson
Research28 Jun 2009
Nature Genetics

Volume: 41, P: 926-930
Allele frequency of variants reported to cause adenine phosphoribosyltransferase deficiency

Hrafnhildur L. Runolfsdottir
John A. Sayer
Runolfur Palsson
ResearchOpen Access11 Mar 2021
European Journal of Human Genetics

Volume: 29, P: 1061-1070

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