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 ].”
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)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Revealing Monogenic Diabetes: Clinical and Genetic Features of Pedi... | pmc | 2025-01-01 | yesterday | 1.00 |