structural variant

  1. Hoopoe

    Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 .. severe fatigue, 2023, Oakley et

    Long read sequencing characterises a novel structural variant, revealing underactive AKR1C1 with overactive AKR1C2 as a possible cause of unexplained severe fatigue Abstract Background Causative genetic variants cannot yet be found for many disorders with a clear heritable component, including...
    • Hoopoe
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    • differential diagnosis genetic genetic disorder genomics neurosteroid progesterone structural variant
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    • Forum: ME/CFS research
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