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...

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Detalles Bibliográficos
Autores principales: Shu, Li, Maroilley, Tatiana, Tarailo-Graovac, Maja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858967/
https://www.ncbi.nlm.nih.gov/pubmed/36672937
http://dx.doi.org/10.3390/genes14010196

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