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Mutation

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Sara L. Ma, Virginia Vega-Warner, [ ... ], Edgar A. Otto

Prevalence and Clinicopathological Characteristics of HER2 and BRAF Mutation in Chinese Patients with Lung Adenocarcinoma

Ling Shan, Tian Qiu, [ ... ], Jianming Ying

KIT Mutation and Loss of 14q May Be Sufficient for the Development of Clinically Symptomatic Very Low-Risk GIST

Olaf Karl Klinke, Tuba Mizani, [ ... ], Henri-Jacques Delecluse

Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

Dandan Tan, Haipo Yang, [ ... ], Hui Xiong

TAE226, a Bis-Anilino Pyrimidine Compound, Inhibits the EGFR-Mutant Kinase Including T790M Mutant to Show Anti-Tumor Effect on EGFR-Mutant Non-Small Cell Lung Cancer Cells

Hiroki Otani, Hiromasa Yamamoto, [ ... ], Shinichi Toyooka

Evolutionary Trends of the Transposase-Encoding Open Reading Frames A and B (orfA and orfB) of the Mycobacterial IS6110 Insertion Sequence

Sara Thabet, Amine Namouchi, Helmi Mardassi

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions

Ewa Golanska, Agata Gajos, [ ... ], Andrzej Bogucki

High Inter-Individual Diversity of Point Mutations, Insertions, and Deletions in Human Influenza Virus Nucleoprotein-Specific Memory B Cells

Sven Reiche, Yamen Dwai, [ ... ], Christian Jassoy

Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone

Erik Hallengren, Peter Almgren, [ ... ], Olle Melander

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers

Pawel Domagala, Anna Jakubowska, [ ... ], Jan Lubinski

Analysis of the GGGGCC Repeat Expansions of the C9orf72 Gene in SCA3/MJD Patients from China

Chunrong Wang, Zhao Chen, [ ... ], Hong Jiang

Rapid, Sensitive, and Accurate Evaluation of Drug Resistant Mutant (NS5A-Y93H) Strain Frequency in Genotype 1b HCV by Invader Assay

Satoshi Yoshimi, Hidenori Ochi, [ ... ], Kazuaki Chayama

Molecular Mechanism for the Thermo-Sensitive Phenotype of CHO-MT58 Cell Line Harbouring a Mutant CTP:Phosphocholine Cytidylyltransferase

Lívia Marton, Gergely N. Nagy, [ ... ], Beáta G. Vértessy

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