17q12 Knowledge Basedeletion syndrome · static snapshot
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Contradicting evidence kidney and urinary tract 1 supporting source confidence 97% novelty 70%

Caution: Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened…

A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”

More contradicting evidence

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:302112. 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)

A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. peer_reviewed · published 2011-01-01 · live page
Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
A 17q12 chromosomal duplication associated with renal disease and e... pubmed 2011-01-01 yesterday 1.00