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ME/CFS Science @mecfsscience.org · 26/12/2025

5) But the evidence that this happens in these patients and that it is relevant to ME/CFS pathology is not very strong (the authors call their analysis preliminary). Larger sample size are needed to determine if these mutations are really more frequent in ME/CFS.

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ME/CFS Science @mecfsscience.org · 26/12/2025

6) Link to the study: Birch et al. Uncovering the genetic architecture of ME/ CFS: a precision approach reveals impact of rare monogenic variation. link.springer.com/ar... Discussion on S4ME: www.s4me.info/thread...

link.springer.com

Uncovering the genetic architecture of ME/CFS: a precision approach reveals impact of rare monogenic variation

Journal of Translational Medicine - Myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) is a disabling and heterogeneous disorder lacking validated biomarkers or targeted therapies....

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