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Null variants (frameshift, nonsense, large deletions), which lead to a completely non-functional protein, are usually associated with PFIC [19]
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Microbial Pathogene (2021) 150:104645
While further research is required to translate these preclinical findings into clinical practice, the identification of the GLP-1R/PPARG/ACSL1 pathway provides a clear roadmap for future investigations into the intersection of metabolic drugs and cancer immunotherapy in the future
The 3R allele for this variant is associated with a 24 fold increase in expression of the TYMS enzyme, as a result of the effect of this variant on the translation efficiency of TYMS
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