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 discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of t…

A source describes a new or expanded observation: “The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all MODY-related genes, with more than 600 distinct variants described worldwide [ 32 , 38 ].”

More phenotype expansion

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:828489. 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)

Revealing Monogenic Diabetes: Clinical and Genetic Features of Pediatric MODY Cases in Türkiye: Single Center Experience peer_reviewed · published 2025-01-01 · live page
The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all MODY-related genes, with more than 600 distinct variants described worldwide [ 32 , 38 ].

Supporting documents (1)

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