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Odyssey of a Misclassified Genomic Variant: Insight from an Incidental Finding Assessment
Genetic evaluation of a teenager with seizure found no pathogenic variant in a large gene panel, but an incidental likely pathogenic HNF4A variant, deemed to cause MODY1 diabetes. Diabetes history was absent and glycated hemoglobin normal, but serum calcium was severely low, with abnormally high par...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472820/ https://www.ncbi.nlm.nih.gov/pubmed/37664540 http://dx.doi.org/10.1177/2329048X231199327 |