Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (Q21183963)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement |
scientific article |
Statements
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement (English)
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Hakon Hakonarson
Hakon
Hakonarson
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Gholson J
Lyon
Gholson J Lyon
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Frederick G
Otieno
Frederick G Otieno
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Jonathan Bradfield
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Yunfei Guo
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Christopher Cardinale
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2013
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5
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7
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67
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