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Mutation databases

Overall survival in EGFR mutated non-small-cell lung cancer patients treated with afatinib after EGFR TKI and resistant mechanisms upon disease progression

A. J. van der Wekken, J. L. Kuiper, [ ... ], H. J. M. Groen

Mutation Spectrum of Six Genes in Chinese Phenylketonuria Patients Obtained through Next-Generation Sequencing

Ying Gu, Kangmo Lu, [ ... ], Jian Huang

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes

Daichi Shigemizu, Takeshi Aiba, [ ... ], Toshihiro Tanaka

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

Anna Kostareva, Artem Kiselev, [ ... ], Eugeniy Shlyakhto

The Disease-Specific Phenotype in Cardiomyocytes Derived from Induced Pluripotent Stem Cells of Two Long QT Syndrome Type 3 Patients

Azra Fatima, Shao Kaifeng, [ ... ], Tomo Šarić

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

Zheng Wang, Aritoshi Iida, [ ... ], Shiro Ikegawa

Structural Modeling and In Silico Analysis of Human Superoxide Dismutase 2

Mariana Dias Castela de Carvalho, Joelma Freire De Mesquita

An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability

Michelle Falcone, Kemal O. Yariz, [ ... ], Mustafa Tekin

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, [ ... ], Surendra Kumar Bansal

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases

Young-Ho Kim, Yura Song, [ ... ], Kyeong-Man Hong

Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, [ ... ], Stergios J. Moschos

Comprehensive Genomic Characterization of Cutaneous Malignant Melanoma Cell Lines Derived from Metastatic Lesions by Whole-Exome Sequencing and SNP Array Profiling

Ingrid Cifola, Alessandro Pietrelli, [ ... ], Cristina Battaglia

Identification and Characterization of Novel Mutations in the Human Gene Encoding the Catalytic Subunit Calpha of Protein Kinase A (PKA)

Kristoffer Søberg, Anja C. V. Larsen, [ ... ], Bjørn S. Skålhegg

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