17q12 Knowledge Basedeletion syndrome · static snapshot
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New publication learning, speech and behaviour 1 supporting source confidence 97% novelty 75%

In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder

of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.

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How this was derived

Indexed from **pmc** on 2026-11-13 (relevance 1.00, tier peer_reviewed).

Generated 2026-11-13, last changed yesterday. Dedup key newdoc:385. 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)

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