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Frameshift mutation

Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis

Fabiola Traina, Valeria Visconte, [ ... ], Ramon V. Tiu

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, [ ... ], Bernd A. Neubauer

Actionable mutations in canine hemangiosarcoma

Guannan Wang, Ming Wu, [ ... ], David B. Roth

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Meng Yu, Yiming Zheng, [ ... ], Zhaoxia Wang

MetAmyl: A METa-Predictor for AMYLoid Proteins

Mathieu Emily, Anthony Talvas, Christian Delamarche

Decreased Expression of the ARID1A Gene Is Associated with Poor Prognosis in Primary Gastric Cancer

Dan-dan Wang, Yi-bing Chen, [ ... ], Jian-chuan Xia

Characterization of Novel StAR (Steroidogenic Acute Regulatory Protein) Mutations Causing Non-Classic Lipoid Adrenal Hyperplasia

Christa E. Flück, Amit V. Pandey, [ ... ], Laura Audi

Genotype-Dependent Efficacy of a Dual PI3K/mTOR Inhibitor, NVP-BEZ235, and an mTOR Inhibitor, RAD001, in Endometrial Carcinomas

Keiko Shoji, Katsutoshi Oda, [ ... ], Yuji Taketani

Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability

Jaime L. Stafford, Gregory Dyson, [ ... ], Michael A. Tainsky

Prevalence and Clinical Features of Hearing Loss Patients with CDH23 Mutations: A Large Cohort Study

Maiko Miyagawa, Shin-ya Nishio, Shin-ichi Usami

Normosmic Congenital Hypogonadotropic Hypogonadism Due to TAC3/TACR3 Mutations: Characterization of Neuroendocrine Phenotypes and Novel Mutations

Bruno Francou, Jérôme Bouligand, [ ... ], Jacques Young

The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, [ ... ], Yi-Chung Lee

Additional Routes to Staphylococcus aureus Daptomycin Resistance as Revealed by Comparative Genome Sequencing, Transcriptional Profiling, and Phenotypic Studies

Yang Song, Aileen Rubio, [ ... ], Brian J. Wilkinson

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