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Missense mutation

A Missense Mutation in the Alpha-Actinin 1 Gene (ACTN1) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family

Paul Guéguen, Karen Rouault, [ ... ], Claude Férec

Rare Variants in Calcium Homeostasis Modulator 1 (CALHM1) Found in Early Onset Alzheimer’s Disease Patients Alter Calcium Homeostasis

Fanny Rubio-Moscardo, Núria Setó-Salvia, [ ... ], Jordi Clarimón

Functional Analysis in Mouse Embryonic Stem Cells Reveals Wild-Type Activity for Three Msh6 Variants Found in Suspected Lynch Syndrome Patients

Eva A. L. Wielders, Hellen Houlleberghs, Gözde Isik, Hein te Riele

Clinical Relevance of Gain-Of-Function Mutations of p53 in High-Grade Serous Ovarian Carcinoma

Hyo Jeong Kang, Sung-Min Chun, [ ... ], Chang Ohk Sung

Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Maiko Miyagawa, Takehiko Naito, [ ... ], Shin-ichi Usami

The Role of Balanced Training and Testing Data Sets for Binary Classifiers in Bioinformatics

Qiong Wei, Roland L. Dunbrack Jr

A Novel Missense (M206K) STAT3 Mutation in Diffuse Large B Cell Lymphoma Deregulates STAT3 Signaling

Guangzhen Hu, Thomas E. Witzig, Mamta Gupta

Screening for Coding Variants in FTO and SH2B1 Genes in Chinese Patients with Obesity

Zhaojing Zheng, Li Hong, [ ... ], Yongguo Yu

Structural Insights into the Folding Defects of Oncogenic pVHL Lead to Correction of Its Function In Vitro

Merav D. Shmueli, Lee Schnaider, [ ... ], Daniel Segal

Oral and Craniofacial Manifestations and Two Novel Missense Mutations of the NTRK1 Gene Identified in the Patient with Congenital Insensitivity to Pain with Anhidrosis

Li Gao, Hao Guo, [ ... ], Kun Xuan

Cancer Missense Mutations Alter Binding Properties of Proteins and Their Interaction Networks

Hafumi Nishi, Manoj Tyagi, [ ... ], Anna R. Panchenko

Compound Heterozygous Mutations in SLC30A2/ZnT2 Results in Low Milk Zinc Concentrations: A Novel Mechanism for Zinc Deficiency in a Breast-Fed Infant

Naoya Itsumura, Yasuji Inamo, [ ... ], Hiroko Kodama

Genetic and Structure-Function Studies of Missense Mutations in Human Endothelial Lipase

Hamid Razzaghi, Anna Tempczyk-Russell, [ ... ], Mair E. A. Churchill

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