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Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

Urolithiasis - 10 Aug 2023

Wu Chen-Han Wilfred, Badreddine Jad, Chang Joshua, Huang Yu-Ren Mike, Kim Fernando J, Wild Trevor, Tsai Anne Chun-Hui, Meeks Naomi, Donalisio Da Silva Rodrigo, Molina Wilson R, Schumacher Fredrick R

Abstract excerpt

BACKGROUND: Cystine stone is a Mendelian genetic disease caused by SLC3A1 or SLC7A9. In this study, we aimed to estimate the genetic prevalence of cystine stones and compare it with the clinical prevalence to better understand the disease etiology. METHODS: We analyzed genetic variants in the general population using the 1000 Genomes project and the Human Gene Mutation Database to extract all SLC3A1 and SLC7A9...

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PMID: 37561200
DOI: 10.1007/s00240-023-01473-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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