17q12 Knowledge Basedeletion syndrome · static snapshot
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Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY

Integrative Bioinformatics Analysis Incorporating Artificial Intelligence and Machine Learning Identifies Putative Pathogenic HNF1B Missense Variants Associated with HNF1B-MODY Maturity-onset diabetes of the young type 5 (MODY5 or HNF1B-MODY) is a rare form of diabetes caused by variants in HNF1B.

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:546. 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)

Consensus analysis by all tools identified five candidate variants (His153Arg, Asn298Asp, Arg303His, Lys305Glu, and Val458Gly), representing 10.6% (5/47) as potentially pathogenic.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Integrative Bioinformatics Analysis Incorporating Artificial Intell... openalex 2026-10-09 yesterday 1.00