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

Caution: However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of a…

A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show that the cystic renal phenotype was not associated with decreased expression of the cystic disease genes identified in mice, implying that a”

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:11e29b. 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)

However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show that the cystic renal phenotype was not associated with decreased expression of the cystic disease genes identified in mice, implying that a more complex HNF1B transcriptional network underlies the human disease.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
From Exome to Optical Mapping: Resolving a Complex 17q12 Rearrangem... pubmed 2026-10-09 yesterday 1.00