17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
Something new reported Kidneys and diabetes 1 supporting source confidence 97% novelty 90%

Someone reported something new: A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diab…

A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”

More something new reported

How this was derived

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

Generated 2026-11-13, last changed yesterday. Dedup key expansion:f3a7ef. 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)

Precision treatment of beta-cell monogenic diabetes: a systematic review peer_reviewed · published 2024-01-01 · live page
A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.

Supporting documents (1)

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