Article
A synonymous variant in KCNJ11 leading to MODY13: a case report and literature review
2023-05-04
Abstract excerpt
137words Background: MODY13 (Maturity-onset diabetes of the young, type 13) is monogenic diabetes associated with the KCNJ11 mutation rarely reported to date. A patient with c.843C>T(p.L281=) in the KCNJ11 gene is reported only in a Chinese patient with congenital hyperinsulinemia. There is no patient diagnosed with MODY13 carrying a synonymous heterozygous variant in the KCNJ11 reported till now. <h4>Method:</h4>...
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Identifiers and source
- Literature Corpus work
- 045a8f74-38aa-5be6-9cf7-5f26885f691d
- DOI
- 10.21203/rs.3.rs-2888292/v1
