17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Research frontier 1 supporting source confidence 97% novelty 90%

New observation reported: In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and exp…

A source describes a new or expanded observation: “In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.”

More phenotype expansion

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:e57433. 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
In addition, P1 showed decreased GPI-APs, advancing the clinical interpretation of the novel genotype, and expanding the biochemical phenotype.

Supporting documents (1)

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