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Frameshift mutation

MetAmyl: A METa-Predictor for AMYLoid Proteins

Mathieu Emily, Anthony Talvas, Christian Delamarche

SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel POU4F3 Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15)

Hee-Jin Kim, Hong-Hee Won, [ ... ], Jong-Won Kim

Spectrum of EGFR Gene Copy Number Changes and KRAS Gene Mutation Status in Korean Triple Negative Breast Cancer Patients

Yoonjung Kim, Juwon Kim, [ ... ], Kyung-A Lee

Massively Parallel DNA Sequencing Successfully Identifies New Causative Mutations in Deafness Genes in Patients with Cochlear Implantation and EAS

Maiko Miyagawa, Shin-ya Nishio, [ ... ], Shin-ichi Usami

Novel CIC Point Mutations and an Exon-Spanning, Homozygous Deletion Identified in Oligodendroglial Tumors by a Comprehensive Genomic Approach Including Transcriptome Sequencing

Sophie Eisenreich, Khalil Abou-El-Ardat, [ ... ], Barbara Klink

Heterozygous and Homozygous JAK2^V617F States Modeled by Induced Pluripotent Stem Cells from Myeloproliferative Neoplasm Patients

Joseph Saliba, Sofiane Hamidi, [ ... ], Antonio Di Stefano

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Dennis Lal, Eva M. Reinthaler, [ ... ], Bernd A. Neubauer

Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, [ ... ], Jun Wang

A CNGB1 Frameshift Mutation in Papillon and Phalène Dogs with Progressive Retinal Atrophy

Saija J. Ahonen, Meharji Arumilli, Hannes Lohi

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

Amjad Horani, Steven L. Brody, [ ... ], Eitan Kerem

A BAP1 Mutation in a Danish Family Predisposes to Uveal Melanoma and Other Cancers

Lauren G. Aoude, Karin Wadt, [ ... ], Nicholas K. Hayward

Structural Integrity of the Greek Key Motif in βγ-Crystallins Is Vital for Central Eye Lens Transparency

Venkata Pulla Rao Vendra, Garima Agarwal, [ ... ], Dorairajan Balasubramanian

Mechanisms and Fitness Costs of Resistance to Antimicrobial Peptides LL-37, CNY100HL and Wheat Germ Histones

Hava Lofton, Maria Pränting, Elisabeth Thulin, Dan I. Andersson

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