17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion kidney and urinary tract 1 supporting source confidence 97% novelty 90%

New observation reported: D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a N…

A source describes a new or expanded observation: “D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, 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:7b43cd. 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)

D., Rasmussen M., Parida M., et al., "A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans," Genetics 207, no.

Supporting documents (1)

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