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A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family
published 17 Sep 2013
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Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer’s Disease Patients Alter Calcium Homeostasis
published 17 Sep 2013
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Functional Analysis in Mouse Embryonic Stem Cells Reveals Wild-Type Activity for Three Msh6 Variants Found in Suspected Lynch Syndrome Patients
published 10 Sep 2013
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Clinical Relevance of Gain-Of-Function Mutations of p53 in High-Grade Serous Ovarian Carcinoma
published 13 Aug 2013
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Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients
published 13 Aug 2013
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The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics
published 09 Jul 2013
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A Novel Missense (M206K) STAT3 Mutation in Diffuse Large B Cell Lymphoma Deregulates STAT3 Signaling
published 04 Jul 2013
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Screening for Coding Variants in FTO and SH2B1 Genes in Chinese Patients with Obesity
published 25 Jun 2013
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Structural Insights into the Folding Defects of Oncogenic pVHL Lead to Correction of Its Function In Vitro
published 20 Jun 2013
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Oral and Craniofacial Manifestations and Two Novel Missense Mutations of the NTRK1 Gene Identified in the Patient with Congenital Insensitivity to Pain with Anhidrosis
published 14 Jun 2013
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Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks
published 14 Jun 2013
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Compound Heterozygous Mutations in SLC30A2/ZnT2 Results in Low Milk Zinc Concentrations: A Novel Mechanism for Zinc Deficiency in a Breast-Fed Infant
published 31 May 2013
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Genetic and Structure-Function Studies of Missense Mutations in Human Endothelial Lipase
published 25 Mar 2013
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