Phenotype expansion
Signs & symptoms
1 supporting source
confidence 97%
novelty 90%
New observation reported: Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1…
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
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:8ad161.
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)
De novo HNF1 homeobox B mutation as a cause for chronic, treatment-resistant hypomagnesaemia.
peer_reviewed
· published 2018-01-01
· live page
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
Supporting documents (1)
| Article | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| De novo HNF1 homeobox B mutation as a cause for chronic, treatment-... | pubmed | 2018-01-01 | yesterday | 1.00 |