17q12 Knowledge Basedeletion syndrome · static snapshot
All content was collected from public internet sources and processed with the help of AI/LLM software. This site is informative only — do not draw conclusions; verify with the original sources. Full disclaimer
Frequency / statistic kidney and urinary tract 1 supporting source confidence 97% novelty 60%

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mel

A source reports “2 cases” in the context of diabetes metabolic: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.”

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:2 cases. 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)

First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.

Supporting documents (1)

ArticleSourcePublishedSeenRelevance
Precision treatment of beta-cell monogenic diabetes: a systematic review pmc 2024-01-01 yesterday 1.00