Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive meg…
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-14, last changed
today. Dedup key expansion:2ad078.
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)
Precision treatment of beta-cell monogenic diabetes: a systematic review
peer_reviewed
· published 2024-01-01
· live page
A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Precision treatment of beta-cell monogenic diabetes: a systematic review | pmc | 2024-01-01 | yesterday | 1.00 |