Article

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

2023-11-02

Abstract excerpt

<title>Abstract</title> <bold>Background</bold> 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 refractory to short read approaches. Structural variants in these regions can...

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Literature Corpus work: 58a5a0ce-b232-5800-b0d8-c36e574339b5
DOI: 10.21203/rs.3.rs-3218228/v3

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