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, January 2013

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In the top 25% of all research outputs scored by Altmetric
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So far, Dimensions has found 80 publications that cite this research output.

Article in Annual Review of Genetics (August 2023)

Article in International Journal of Molecular Sciences (May 2023)

Article in Clinical Genetics (April 2023)

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