17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Learning, talking and behaviour 1 supporting source confidence 97% novelty 90%

Someone reported something new: Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome…

A source describes a new or expanded observation: “Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.”

More something new reported

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:8bb78d. 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)

Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature peer_reviewed · published 2024-01-01 · live page
Novel biallelic variant in the BRAT1 gene caused nonprogressive cerebellar ataxia syndrome.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Prenatal genetic detection in foetus with gallbladder size anomalie... pmc 2024-01-01 yesterday 1.00