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The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases
Complex genetic disease mechanisms, such as structural or non-coding variants, currently pose a substantial difficulty in frontline diagnostic tests. They thus may account for most unsolved rare disease patients regardless of the clinical phenotype. However, the clinical diagnosis can narrow the gen...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858967/ https://www.ncbi.nlm.nih.gov/pubmed/36672937 http://dx.doi.org/10.3390/genes14010196 |