17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Signs & symptoms 1 supporting source confidence 97% novelty 90%

New observation reported: Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in se…

A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”

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:c6b0fe. 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)

Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
HNF1B Transcription Factor: Key Regulator in Renal Physiology and P... pmc 2024-01-01 yesterday 1.00