Article

Heterozygous truncating variants in BICC1 are a novel cause of autosomal-dominant tubulointerstitial kidney disease

2026-08-23

Abstract excerpt

<h4>Introduction: </h4> Autosomal-dominant tubulointerstitial kidney disease (ADTKD) is characterized by chronic kidney disease (CKD) with an average age of end-stage renal disease (ESRD) of approximately 45 years, bland urinary sediment, the absence of proteinuria and autosomal dominant inheritance. While several causative genes have been found, there remain families in whom no molecular diagnosis has been identi...

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Literature Corpus work: ab32b838-f4f3-570f-9606-ef8c84c2f428
DOI: 10.64898/2026.08.20.26360556

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