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Rare variant analysis has revealed that loss-of-function mutations within activating transcription factor 4 (ATF4), a transcription factor responsible for the upregulation of serine synthesis under conditions of serine starvation, are associated with higher risk for PAH, which further suggests serine is closely related PAH

Zhang et al., 2021) (Figure 2)

doi: 10.1016/j.exger.2019.05.002

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