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[会议论文] 作者:Klingseisen,Ilyas Ahmad,Muhammad Sajid Hussain,Andrea Leitch,Gudrun Nürnberg,Mohammad Reza Toliat,Jennie E.Murray, 来源:The 2nd International Rare Diseases Research Consortium Conf 年份:2014
The rapid uptake of exome sequencing has greatly increased the molecular diagnosis in Mendelian genetic syndromes.Providing adequate genetic evidence for rare syndromes remains challenging,with genes...
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