17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What it can look like 1 supporting source confidence 97% novelty 90%

Someone reported something new: 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.”

More something new reported

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-13, last changed yesterday. Dedup key expansion:3d7e9b. 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)

StorySourcePublishedSeenRelevance
De novo HNF1 homeobox B mutation as a cause for chronic, treatment-... pubmed 2018-01-01 yesterday 1.00