Phenotype expansion
Research frontier
1 supporting source
confidence 97%
novelty 90%
New observation reported: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
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:b9ad04.
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
TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Precision treatment of beta-cell monogenic diabetes: a systematic review | pmc | 2024-01-01 | yesterday | 1.00 |