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Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
Wang K,
Kim C,
Bradfield J,
Guo YF,
Toskala E,
Otieno FG,
Hou CP,
Thomas K,
Cardinale C,
Lyon GJ,
Golhar R,
Hakonarson H

Genome Medicine
  5 (0): Jul 2013   NLM
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