Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy

标题
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy
作者
关键词
Intellectual Disability, Intellectual Disability, Exome Sequencing, Severe Intellectual Disability, Pathogenic CNVs
出版物
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 38, Issue 5, Pages 941-948
出版商
Springer Nature
发表日期
2015-03-02
DOI
10.1007/s10545-015-9824-x

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