Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
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DOI: 10.1016/j.ekir.2021.08.033
Abstract: Introduction Because of phenotypic overlap between monogenic urinary stone diseases (USD), gene-specific analyses can result in missed diagnoses. We used targeted next generation sequencing (tNGS), including known and candidate monogenic USD genes, to analyze suspected… read more here.
Keywords: pathogenic variants; urinary stone; analysis; disease ... See more keywords