Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Whole exome sequencing identified a novel nonsense INPP4A mutation in a family with intellectual disability

Affiliation:	1. Subdivision of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey;2. Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir, Turkey

Abstract:

Keywords:	Autosomal recessive Intellectual disability In silico analysis Stop-gained mutation C.115 C>T p.Gln39X Whole exome sequencing
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