Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

被引：0
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作者：
Tugce Bozkurt
Yasemin Alanay
Ugur Isik
Ugur Sezerman
机构：
[1] Acibadem Mehmet Ali Aydinlar University,Biostatistics and Bioinformatics Program, Graduate School of Health Sciences
[2] Acibadem Mehmet Ali Aydinlar University,Division of Pediatric Genetics, Department of Pediatrics, School of Medicine
[3] Acibadem Mehmet Ali Aydinlar University,Division of Pediatric Neurology, Department of Pediatrics, School of Medicine
来源：
BMC Medical Genomics | / 14卷
关键词：
Whole exome sequencing; GLUT1 Deficiency Syndrome 1; Ketogenic diet; Hemangioma;
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