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A novel missense creatine mutant of
CaBP4
, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4
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@article{{TP}{91613}, author = {Guo, Y., Miao, Q., Zhang, Y., Wang, C., Liang, M., Li, X., Qiu, W., Shi, G., Zhai, Q., Chen, Z.}, title = {A novel missense creatine mutant of <em>CaBP4</em>, c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4}, journal = {Translational Pediatrics}, volume = {11}, number = {3}, year = {2022}, url = {https://tp.amegroups.org/article/view/91613} }