17q12, explained for kidsdeletion syndrome · static snapshot
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A number from a study Learning, talking and behaviour 1 supporting source confidence 97% novelty 60%

Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epile

A source reports “0.005%” in the context of neurodevelopment: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis across the entire exome, at both an individual-gene and a gene-set level. "Ultra-rare" variants (URVs) wer”

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Generated 2026-11-13, last changed yesterday. Dedup key freq:0.005%. 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)

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes peer_reviewed · published 2024-01-01 · live page
Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis across the entire exome, at both an individual-gene and a gene-set level. "Ultra-rare" variants (URVs) were defined as variants observed no more than five copies among the combined case-control cohort, which corresponded to a minor allele frequen

Supporting documents (1)

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Exome sequencing of 20,979 individuals with epilepsy reveals shared... pmc 2024-01-01 yesterday 1.00