Ayaz, AkifSager, Safiye GüneşGökşen, Ahmet SercanKök, KıvançÇalışkan, EmineAlomari, Omar2025-12-082025-12-082025Ayaz, A., Sager, S. G., Gökşen, A. S., Kök, K., Çalışkan, E. ve Alomari, O. (2025). Homozygous astn1 nonsense variant linked to epileptic encephalopathy: a detailed report with unique clinical presentation. Clinical Genetics, 107(4), 475-476. http://dx.doi.org/10.1111/cge.146740009-91631399-0004http://dx.doi.org/10.1111/cge.14674https://hdl.handle.net/20.500.12511/13299...eninfo:eu-repo/semantics/openAccessASTN1 GeneEpileptic EncephalopathyNeurodevelopmental DisordersWhole Exome SequencingHomozygous astn1 nonsense variant linked to epileptic encephalopathy: a detailed report with unique clinical presentationLetter107447547610.1111/cge.14674Q3WOS:0013767431000012-s2.0-8521368701239667727Q2