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Mutation databases

High polymerase ε expression associated with increased CD8+T cells improves survival in patients with non-small cell lung cancer

Kyueng-Whan Min, Wan-Seop Kim, [ ... ], Jung-Hoon Park

A rare CTSC mutation in Papillon-Lefèvre Syndrome results in abolished serine protease activity and reduced NET formation but otherwise normal neutrophil function

Felix P. Sanchez Klose, Halla Björnsdottir, [ ... ], Johan Bylund

High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome

Ivan Sergeevich Moiseev, Nikolay Yurevich Tcvetkov, [ ... ], Elena Vladislavovna Morozova

Dermokine mutations contribute to epithelial-mesenchymal transition and advanced melanoma through ERK/MAPK pathways

Wenqiong Ma, Zexiu Wu, [ ... ], Qing Lian Wen

Characterization of the Drug Resistance Profiles of Patients Infected with CRF07_BC Using Phenotypic Assay and Ultra-Deep Pyrosequencing

Szu-Wei Huang, Wei-You Li, [ ... ], Yi-Ming Arthur Chen

Comprehensive somatic mutational analysis in glioblastoma: Implications for precision medicine approaches

Parisa Azimi, Mina Karimpour, [ ... ], Abolhassan Ahmadiani

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

Lena Duchateau, Lorena Martín-Aguilar, [ ... ], Luis Querol

A decade of viral mutations and associated drug resistance in a population of HIV-1⁺ Puerto Ricans: 2002–2011

Lycely del C. Sepúlveda-Torres, Lavanya Rishishwar, [ ... ], Luis A. Cubano

Longitudinal Detection and Persistence of Minority Drug-Resistant Populations and Their Effect on Salvage Therapy

Masako Nishizawa, Masakazu Matsuda, [ ... ], Wataru Sugiura

Screening for and Verification of Novel Mutations Associated with Drug Resistance in the HIV Type 1subtype B^′ in China

Hanping Li, Qingmao Geng, [ ... ], Jingyun Li

A Novel Single Nucleotide T980C Polymorphism in the Human Carboxypeptidase E Gene Results in Loss of Neuroprotective Function

Lin Cong, Yong Cheng, [ ... ], Y. Peng Loh

Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening

Eric Manderstedt, Rosanna Nilsson, [ ... ], Christer Halldén

Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis

Tsukasa Osaki, Masayoshi Souri, Akitada Ichinose

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