Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation.

• Tác giả: Omar Alomari, Akif Ayaz, Emine Caliskan, Ahmet Sercan Gökşen, Kıvanç Kök, Safiye Güneş Sager
• Ngôn ngữ: eng
• Ký hiệu phân loại: 003.209 Historical, geographic, persons treatment of forecasting as a discipline
• Thông tin xuất bản: Denmark : Clinical genetics , 2025
• Bộ sưu tập: NCBI
• ID: 736455
• Chủ đề: 1. Homozygous; 2. Astn1; 3. Nonsense

Tóm tắt

 Identification of a new pathogenic ASTN1 p.R517X (c.1549C>
 T) variant in a 7-month-old girl using gene sequencing methods and bioinformatics analysis.