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C9orf72 Repeat Expansion Detection Using Short-Read Whole-Genome Sequencing Data

M. A. Eberle,J. F. van Vugt, R. J. Shaw,W. van Rheenen, A. M. Dekker,M. A. Bekritsky, S. S. Ajay,S. Chowdhury, T. Hambuch,R. Taft, D. Bentley,L. H. van den Berg,J. H. Veldink

JOURNAL OF MOLECULAR DIAGNOSTICS（2015）

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