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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy

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Description scientific article
Author/s

author: James C Mullikin  Praveen F Cherukuri  Anthony Antonellis  NISC Comparative Sequencing Program  Jeffery M. Vance  Leslie G Biesecker  Charles C Searby  Ya-Ming Hou  Davut Pehlivan  Eric D. Green  James R. Lupski  Stephan Züchner  Kevin Talbot 

Publication date October 1, 2010
Language English
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