17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in …

A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”

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:e7b1da. 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)

Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
A Korean Family Presenting with Renal Cysts and Maturity-Onset Diab... pubmed 2024-09-11 yesterday 1.00