Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY

Maturity-onset diabetes of the young (MODY) is an autosomal dominant form of monogenic diabetes, reported to be caused by variants in 16 genes. Concern has been raised about whether variants in BLK (MODY11), KLF11 (MODY7), and PAX4 (MODY9) cause MODY. We examined variant-level genetic evidence (cose...

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Detalles Bibliográficos
Autores principales: Laver, Thomas W., Wakeling, Matthew N., Knox, Olivia, Colclough, Kevin, Wright, Caroline F., Ellard, Sian, Hattersley, Andrew T., Weedon, Michael N., Patel, Kashyap A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Diabetes Association 2022
Materias:
Genetics/Genomes/Proteomics/Metabolomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044126/
https://www.ncbi.nlm.nih.gov/pubmed/35108381
http://dx.doi.org/10.2337/db21-0844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9044126/
https://www.ncbi.nlm.nih.gov/pubmed/35108381
http://dx.doi.org/10.2337/db21-0844

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