17q12 Knowledge Basedeletion syndrome · static snapshot
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Contradicting evidence Research frontier 1 supporting source confidence 97% novelty 70%

Caution: Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant sp…

A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the proportion of inherited versus de novo pathogenic variants ( p = 0.198).”

How this was derived

Kept visible so the knowledge base does not only show positive results.

Generated 2026-11-13, last changed today. Dedup key negation:320b6a. 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)

Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the proportion of inherited versus de novo pathogenic variants ( p = 0.198).

Supporting documents (1)

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