Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Overview of attention for article published in Genome Medicine, July 2013

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RT @GholsonLyon: @jxchong By the way, here is instance where WGS worked when exome did not. http://t.co/eCPQurCxFv Surprised the CMG did no…

@jxchong By the way, here is instance where WGS worked when exome did not. http://t.co/eCPQurCxFv Surprised the CMG did not have this....

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 http://t.co/OVf44fMCGB

Hakonarson: Diagnostic odyssey paper here in Genome Med. http://t.co/Kwvbj2gSBr #AGBT14

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