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: Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-depe…

A source describes a new or expanded observation: “Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].”

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:ec03ab. 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)

Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
From mutation to symptoms: a multi-center study on HNF1B -related n... pmc 2025-01-01 yesterday 1.00