At first glance, the mutation looks subtle.
One surface residue.
But proteins are mechanical systems.
To understand why Q247P matters, we need to zoom in further.
This is what happens in real patients.
CIPO is a disorder where the bowels fail to move food despite no physical blockage.
Dysfunction may emerge from any point along the brainβgut axis.
100+ unsolved cases were deeply analyzed.
The study was not just about genes and proteins.
Behind every mutation is a person waiting.
Discover patients' stories.