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: Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a …

A source describes a new or expanded observation: “Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and therefore in the development of the female reproductive system.”

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:0b2624. 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
Here, we report results of CNV analysis and screening of TBX6 and LHX1 in 112 patients with MA, and suggest a role also for TBX6 in the complex genetics of MA, and therefore in the development of the female reproductive system.

Supporting documents (1)

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