Homozygous astn1 nonsense variant linked to epileptic encephalopathy: a detailed report with unique clinical presentation
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info:eu-repo/semantics/openAccess
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10.1111/cge.14674
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Clinical Genetics
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107
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4
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Ayaz, 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.14674
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