Frequency / statistic
learning, speech and behaviour
1 supporting source
confidence 97%
novelty 60%
7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20%
A source reports “70%” in the context of neurodevelopment: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort had a known family history of epilepsy.”
How this was derived
Numbers are quoted verbatim from the source; check the source before quoting onward.
Generated 2026-11-13, last changed
today. Dedup key freq:70%.
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 (3 quotes)
Atypical presentation of HNF1β gene mutation mimicking type 2 diabetes: Case report and literature review
peer_reviewed
· published 2025-01-01
· live page
Additionally imaging studies have shown dysgenesis of the pancreas, with over 70% of cases occurring in the pancreatic body or tail; this pattern is known as dorsal pancreatic dysplasia.
Fetal agenesis of corpus callosum: chromosomal copy number abnormalities and postnatal follow-up
peer_reviewed
· published 2024-01-01
· live page
Mangione et al. reported that up to 70% of children with a prenatal diagnosis of isolated ACC developed normally [ 23 ].
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
7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort had a known family history of epilepsy.
Supporting documents (3)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| Atypical presentation of HNF1β gene mutation mimicking type 2 diabe... | pmc | 2025-01-01 | yesterday | 1.00 |
| Fetal agenesis of corpus callosum: chromosomal copy number abnormal... | pmc | 2024-01-01 | yesterday | 1.00 |
| Exome sequencing of 20,979 individuals with epilepsy reveals shared... | pmc | 2024-01-01 | yesterday | 1.00 |