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OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med. 2023 Mar;25(3):100351. doi: 10.1016/j.gim.2022.11.019. Epub 2022 Dec 6.
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PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2.
Kidney Int. 2023 Jan;103(1):207-217. doi: 10.1016/j.kint.2022.07.025. Epub 2022 Aug 22.
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Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1.
N Engl J Med. 2021 Apr 1;384(13):1216-1226. doi: 10.1056/NEJMoa2021712.
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Genetics of kidney stone disease.
Nat Rev Urol. 2020 Jul;17(7):407-421. doi: 10.1038/s41585-020-0332-x. Epub 2020 Jun 12.
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Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Nat Commun. 2019 Nov 15;10(1):5175. doi: 10.1038/s41467-019-13145-x.
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Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14.
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A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population.
Gene. 2012 Dec 15;511(2):127-30. doi: 10.1016/j.gene.2012.09.112. Epub 2012 Oct 6.
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A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis.
J Urol. 2011 May;185(5):1742-6. doi: 10.1016/j.juro.2010.12.094. Epub 2011 Mar 21.
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Urokinase gene 3'-UTR T/C polymorphism is associated with urolithiasis.
Urology. 2002 Mar;59(3):458-61. doi: 10.1016/s0090-4295(01)01576-x.

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