Critically, our work in Slc25a1 KO mice has clinical relevance, as we identified a strong trend for pathogenic variants of human SLC25A1 to associate with CHD.
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The mitochondrial citrate carrier SLC25A1 regulates metabolic reprogramming and morphogenesis in the developing heart.
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While our SLC25A1 variant burden testing did not reach statistical significance, it is important to note that our studies of the Slc25a1 KO mouse model support neonatal lethality of Slc25a1 +/- pups before P7.