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Scalable Dual-Fluorescence Assay for Functional Interpretation of HNF-4α Missense Variants
AIM: The study aimed to develop a scalable dual-fluorescence assay in cells to enable the functional interpretation of HNF-4α missense variants identified in exome sequencing, which can be used to guide clinical diagnosis. METHODS: Using mOrange2 and GFP fluorescence proteins to track the expression...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8883583/ https://www.ncbi.nlm.nih.gov/pubmed/35237236 http://dx.doi.org/10.3389/fendo.2022.812747 |