17q12 Knowledge Basedeletion syndrome · static snapshot
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Frequency / statistic Research frontier 1 supporting source confidence 97% novelty 60%

( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of

A source reports “21%” in the context of general: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the other two had missense mutations.”

How this was derived

Numbers are quoted verbatim from the source; check the source before quoting onward.

Generated 2026-11-13, last changed yesterday. Dedup key freq:21%. 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)

( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the other two had missense mutations.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deleti... pmc 2024-01-01 yesterday 1.00