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: Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HN…

A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than variants located in the POU h or transactivation domains.”

More phenotype expansion

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:f5fd87. 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)

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions peer_reviewed · published 2024-01-01 · live page
Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than variants located in the POU h or transactivation domains.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and... pmc 2024-01-01 yesterday 1.00