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: This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional a…

A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of these variants.”

More phenotype expansion

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:ad17fe. 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)

Whole exome sequencing reveals novel candidate gene variants for MODY. peer_reviewed · published 2020-11-01 · live page
This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of these variants.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Whole exome sequencing reveals novel candidate gene variants for MODY. pubmed 2020-11-01 yesterday 0.74