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Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing
BACKGROUND/AIMS: Diagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate patients for genetic testing with a negative predic...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
S. Karger AG
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822678/ https://www.ncbi.nlm.nih.gov/pubmed/26022541 http://dx.doi.org/10.1159/000398819 |