17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and addi…

A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus, hypoplasia of vaginal part of uteri cervix, hypoplasia of vagina, transverse vaginal septum.”

More something new reported

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pubmed.

Generated 2026-11-13, last changed today. Dedup key expansion:92f5b7. 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)

Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominant Polycystic Kidney Disease. peer_reviewed · published 2024-01-01 · live page
The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus, hypoplasia of vaginal part of uteri cervix, hypoplasia of vagina, transverse vaginal septum.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Large Kidney Cysts in HNF1B Nephropathy Mimicking Autosomal Dominan... pubmed 2024-01-01 yesterday 1.00