17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and …

A source describes a new or expanded observation: “The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.”

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:dbea6b. 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)

The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... pmc 2025-01-01 yesterday 1.00