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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic variation analysis in a Chinese Maffucci syndrome patient

Yang Xue1, Jinwen Ni1, Mi Zhou1

  • 1State Key Laboratory of Military Stomatology, Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, the Fourth Military Medical University, 145 West Changle Road, Xi'an 710032, PR China.

Journal of Cranio-Maxillo-Facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery
|July 1, 2015
PubMed
Abstract

Keywords:
Copy number variationIDH1IDH2Maffucci syndromeMicroarray analysis

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