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: MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 …

A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”

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:cb25d2. 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)

Maturity-onset diabetes of the young type 5, presenting as diabetic ketoacidosis with alkalemia: A report of a case. peer_reviewed · published 2022-05-01 · live page
MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Maturity-onset diabetes of the young type 5, presenting as diabetic... pubmed 2022-05-01 yesterday 1.00