17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What scientists are working on 1 supporting source confidence 97% novelty 90%

Someone reported something new: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…

A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”

How this was derived

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

Generated 2026-11-13, last changed today. Dedup key expansion:006b4a. 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)

Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Identification of novel driver risk genes in CNV loci associated wi... pmc 2024-01-01 yesterday 0.45