17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion Signs & symptoms 1 supporting source confidence 97% novelty 90%

New observation reported: S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT…

A source describes a new or expanded observation: “S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of Sciences of the United States of America 117, no.”

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:560d9c. 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)

S., et al., "Testis Formation in XX Individuals Resulting From Novel Pathogenic Variants in Wilms' Tumor 1 (WT1) Gene," Proceedings of the National Academy of Sciences of the United States of America 117, no.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
The Genetic Landscape of Müllerian Duct Anomalies: A Comprehensive Review pmc 2025-01-01 yesterday 1.00