Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
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| Description | scientific article |
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author: Kai Wang Frederick C F Otieno Kelly A Thomas Elina Toskala Ryan Golhar Gholson J Lyon Cecilia Kim Cuiping Hou Hakon Hakonarson |
| Publication date | 2013 |
| Language | English |
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