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New Paper! NGS with copy number variant detection expands spectrum of HSD17B4-deficiency http://t.co/6ZgU6SGSGm #bmcmedicalgenetics
New Paper! NGS with copy number variant detection expands spectrum of HSD17B4-deficiency http://t.co/6ZgU6SGSGm #bmcmedicalgenetics
CNV detection from exome seq data identifies 12 kb heterozygous deletion that could contribute to phenotype http://t.co/pyWBAXZSuF