17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
A number from a study Learning, talking 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.”

More a number from a study

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)

StorySourcePublishedSeenRelevance
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