Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
出版年份 2013 全文链接
标题
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
作者
关键词
Exome Sequencing, Glycogen Storage Disease, Glycogen Storage Disease Type, Mendelian Disease, Disease Candidate Gene
出版物
Genome Medicine
Volume 5, Issue 7, Pages 67
出版商
Springer Nature
发表日期
2013-07-26
DOI
10.1186/gm471
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