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Population Genetics Analysis of<i>SLC3A1</i>and<i>SLC7A9</i>Revealed the Etiology of Cystine Stone May Be More Than What Our Current Genetic Knowledge Can Explain

2023-05-10

Abstract excerpt

<h4>Background</h4> 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. <h4>Methods</h4> We analyzed genetic variants in the general population using the 1000 Genomes project and the Human Gene Mutation Database to extract all SLC3...

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Literature Corpus work: 9eb5b33b-5c35-52ee-b77a-66a79e1c65a6
DOI: 10.1101/2023.05.09.23289733

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Population Genetics Analysis of<i>SLC3A1</i>and<i>SLC7A9</i>Revealed the Etiology of Cystine Stone May Be More Than What Our Current Genetic Knowledge Can ExplainDOI 10.1101/2023.05.09.23289733Read

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