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Frameshift mutation

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

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

Ana Blanco, Miguel de la Hoya, [ ... ], Ana Vega

Structural Analysis of Mitochondrial Mutations Reveals a Role for Bigenomic Protein Interactions in Human Disease

Rhiannon E. Lloyd, John E. McGeehan

Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome

Mark Clendenning, Joanne P. Young, [ ... ], Daniel D. Buchanan

Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis

Marta Corton, Koji M. Nishiguchi, [ ... ], Carlo Rivolta

Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Jian Wang, Tingting Yu, [ ... ], Qihua Fu

Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families

Xiu-Feng Huang, Ping Xiang, [ ... ], Zi-Bing Jin

Identification of a KEAP1 Germline Mutation in a Family with Multinodular Goitre

Risa Teshiba, Tatsuro Tajiri, [ ... ], Ken Yamamoto

Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing

Sae-Won Han, Hwang-Phill Kim, [ ... ], Tae-You Kim

Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers

Wei Yin, Xiaoqian Ye, Huali Fan, Zhuan Bian

DNA-Bound Platinum Is the Major Determinant of Cisplatin Sensitivity in Head and Neck Squamous Carcinoma Cells

Sanne R. Martens-de Kemp, Simone U. Dalm, [ ... ], Ruud H. Brakenhoff

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