17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What it can look like 1 supporting source confidence 97% novelty 90%

Someone reported something new: Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the develo…

A source describes a new or expanded observation: “Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the brain, cerebellum, kidneys and genitourinary system, gastrointestinal system, skeleton, diaphragm and abdominal wall.”

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:8b2d2f. 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)

In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder peer_reviewed · published 2024-01-01 · live page
Including the newly described cardiac malformations, we demonstrate that PIGW disruption may affect the development of almost all major human systems, especially the brain, cerebellum, kidneys and genitourinary system, gastrointestinal system, skeleton, diaphragm and abdominal wall.

Supporting documents (1)

StorySourcePublishedSeenRelevance
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12... pmc 2024-01-01 yesterday 1.00