17q12 Knowledge Basedeletion syndrome · static snapshot
Adults Scientists Kids EN NL
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstru…

A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particula”

More phenotype expansion

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-13, last changed today. Dedup key expansion:bc17b9. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

The copy number variation landscape of congenital anomalies of the kidney and urinary tract. peer_reviewed · published 2019-01-01 · live page
Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
The copy number variation landscape of congenital anomalies of the ... pubmed 2019-01-01 yesterday 1.00