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Deletion mutation

Prevalence of pfhrp2 and/or pfhrp3 Gene Deletion in Plasmodium falciparum Population in Eight Highly Endemic States in India

Praveen Kumar Bharti, Himanshu Singh Chandel, [ ... ], Neeru Singh

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Thierry Vilboux, Carla Ciccone, [ ... ], Marjan Huizing

Group II Intron-Anchored Gene Deletion in Clostridium

Kaizhi Jia, Yan Zhu, Yanping Zhang, Yin Li

Molecular Epidemiological Characterization and Health Burden of Thalassemia in Jiangxi Province, P. R. China

Min Lin, Tian-Yu Zhong, [ ... ], Li-Ye Yang

Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis

Ghada Al-Kafaji, Halla F. Bakheit, [ ... ], Moiz Bakhiet

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations

Judith Savige, Helen Storey, [ ... ], Mato Nagel

Generation of deletions and precise point mutations in Dictyostelium discoideum using the CRISPR nickase

Hoshie Iriki, Takefumi Kawata, Tetsuya Muramoto

Including Total EGFR Staining in Scoring Improves EGFR Mutations Detection by Mutation-Specific Antibodies and EGFR TKIs Response Prediction

Shang-Gin Wu, Yih-Leong Chang, [ ... ], Jin-Yuan Shih

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China

Yuan-Zong Song, Zhan-Hui Zhang, [ ... ], Takeyori Saheki

Screening for EGFR and KRAS Mutations in Endobronchial Ultrasound Derived Transbronchial Needle Aspirates in Non-Small Cell Lung Cancer Using COLD-PCR

George Santis, Roger Angell, [ ... ], Khalid Tobal

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing

Huiwen Zhang, Jing Li, [ ... ], Xuefan Gu

A Novel SERPINA1 Mutation Causing Serum Alpha₁-Antitrypsin Deficiency

Darren N. Saunders, Elizabeth A. Tindall, [ ... ], Vanessa M. Hayes

Heterogeneous Adaptive Trajectories of Small Populations on Complex Fitness Landscapes

Daniel E. Rozen, Michelle G. J. L. Habets, Andreas Handel, J. Arjan G. M. de Visser

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