Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agene…
A source describes a new or expanded observation: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.”
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:5891d0.
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)
Mayer–Rokitansky–Küster–Hauser syndrome with inguinal hernia, left renal fusion, and malrotation: a rare case
peer_reviewed
· published 2025-01-01
· live page
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Mayer–Rokitansky–Küster–Hauser syndrome with inguinal hernia, left ... | pmc | 2025-01-01 | yesterday | 1.00 |