A Rare Single Nucleotide Variant Causing a False-Negative HTT CAG Repeat Expansion Result in the Evaluation of a Patient for Huntington Disease

F. El-Sharkawy, E. Suh, T. Bardakjian, C. Gentile, G. Latham, S. Statt, J. Thibert, T. Markulin, P. Gonzalez-Alegre, V. Van Deerlin, S. Priore

JOURNAL OF MOLECULAR DIAGNOSTICS（2020）

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