How variant discovery redefines genetic prevalence: the case of cystine stone disease.

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Title: How variant discovery redefines genetic prevalence: the case of cystine stone disease.
Authors: Wu CW; Department of Urology, Department of Genetics, Hugh Kaul Precision Medicine Institute Heersink School of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA. cwwu@uabmc.edu.; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA. cwwu@uabmc.edu., Chang J; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA., Lovrenert K; Department of Urology, Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA., Bodner D; Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA., Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Schumacher FR; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Jul; Vol. 34 (7), pp. 956-963. Date of Electronic Publication: 2026 Apr 09.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-026-02085-y