17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Research frontier 1 supporting source confidence 97% novelty 90%

New observation reported: We also found that most of the genes with the highest number of significant gene-phenotype associations were c…

A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B), although some of the novel validated genes such as COPS8 were also associated with a high number of statistically significant gene-phenotype ”

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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:81e551. 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)

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders peer_reviewed · published 2024-01-01 · live page
We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B), although some of the novel validated genes such as COPS8 were also associated with a high number of statistically significant gene-phenotype relationships (see Table S3 for further details on the specific HPO terms associated to these genes)

Supporting documents (1)

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