Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of severe chronic fatigue

BACKGROUND: Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including chronic fatigue disorders like myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). These conditions may involve genes in difficult-to-align genomic regions that are refr...

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Detalles Bibliográficos
Autores principales: Oakley, Julia, Hill, Martin, Giess, Adam, Tanguy, Mélanie, Elgar, Greg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655400/
https://www.ncbi.nlm.nih.gov/pubmed/37978513
http://dx.doi.org/10.1186/s12967-023-04711-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655400/
https://www.ncbi.nlm.nih.gov/pubmed/37978513
http://dx.doi.org/10.1186/s12967-023-04711-5

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