17q12 Knowledge Basedeletion syndrome · static snapshot
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
New publication kidney and urinary tract 1 supporting source confidence 97% novelty 75%

Functional validation of a non-canonical HNF1B splice-site variant in MODY5

Functional validation of a non-canonical HNF1B splice-site variant in MODY5 Background Mutations in the HNF1B gene can cause developmental and functional abnormalities in multiple organs such as the pancreas, kidneys, and liver.

How this was derived

Indexed from **openalex** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:554. 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)

For patients with early-onset diabetes and extra-renal manifestations, if genetic screening for HNF1B exons and canonical splice sites yields negative results, the pathogenic potential of variants in introns and non-canonical splice sites should be carefully considered.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Functional validation of a non-canonical HNF1B splice-site variant in MODY5 openalex 2026-04-10 yesterday 1.00