17q12, explained for kidsdeletion syndrome · static snapshot
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Something new reported What it can look like 1 supporting source confidence 97% novelty 90%

Someone reported something new: Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX…

A source describes a new or expanded observation: “Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV analysis in a subset of them.”

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 yesterday. Dedup key expansion:59f1f8. 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)

Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. peer_reviewed · published 2018-01-01 · live page
Discussion We report here the results of genetic studies on Müllerian aplasia, namely, results of TBX6 and LHX1 mutation screening in 112 MA patients and CNV analysis in a subset of them.

Supporting documents (1)

StorySourcePublishedSeenRelevance
Clinical and genetic aspects of Mayer-Rokitansky-Küster-Hauser syndrome. pubmed 2018-01-01 yesterday 1.00