Article
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.
The Journal of molecular diagnostics : JMD - 1 Jun 2024
Pavithram Aishwarya, Zhang Haichen, Maloney Kristin A, Ringdal Monika, Kaci Alba, Sagen Jørn V, Kleinberger Jeffrey, Jeng Linda J B, Njølstad Pål R, Pollin Toni I, Molnes Janne, Johansson Bente B
Abstract excerpt
Precision medicine relies on accurate and consistent classification of sequence variants. A correct diagnosis of hepatocyte nuclear factor (HNF) 1B maturity-onset diabetes of the young, caused by pathogenic variants in the HNF1B gene, is important for optimal disease management and prognosis, and it has implications for genetic counseling and follow-up of at-risk family members. We hypothesized that the...
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