ArticleFrontiers in pediatrics2026
Whole exome sequencing identified a novel compound heterozygous mutation of
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Nephronophthisis (NPHP), an autosomal recessive kidney disorder characterized by chronic tubulointerstitial nephritis, is the most prevalent monogenic cause of end-stage renal disease (ESRD). Previous studies have identified variants in more than 20 genes, designated
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