Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RE…
A source describes a new or expanded observation: “Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.”
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:7a4b79.
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)
Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study
peer_reviewed
· published 2025-01-01
· live page
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Etiology and outcomes of fetal renal abnormalities in Southern Chin... | pmc | 2025-01-01 | yesterday | 1.00 |