Whole-genome DNA/RNA sequencing identifies truncating...

Genome Medicine 2013 / 07 Vol. 5; Iss. 7

Whole-genome DNA/RNA sequencing identifies truncating mutations inRBCK1in a novel Mendelian disease with neuromuscular and cardiac involvement

Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon
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Volume:
5
Language:
english
Journal:
Genome Medicine
DOI:
10.1186/gm471
Date:
July, 2013
File:
PDF, 522 KB
english, 2013
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