17q12, explained for kidsdeletion syndrome · static snapshot
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Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort

Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort Background/Objectives: Hepatocyte nuclear factor 1 beta (HNF1B)-associated disease is a major monogenic cause of pediatric cystic kidney disease.

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How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:515. 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)

Clinical Spectrum and Early Renal Functional Variability in a Nationwide Greek Pediatric HNF1B Multicenter Cohort peer_reviewed · published 2026-08-26 · live page
Copy-number variants were identified in 12 patients (60.0%), including ten 17q12 microdeletions and two whole-gene HNF1B deletions, while eight patients (40.0%) carried intragenic variants.

Supporting documents (1)

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Clinical Spectrum and Early Renal Functional Variability in a Natio... openalex 2026-08-26 yesterday 1.00