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Mutation databases

Association between tumor mutation profile and clinical outcomes among Hispanic Latina women with triple-negative breast cancer

Alexander Philipovskiy, Alok K. Dwivedi, [ ... ], Sumit Gaur

Variable patterns of mutation density among Na_V1.1, Na_V1.2 and Na_V1.6 point to channel-specific functional differences associated with childhood epilepsy

Alejandra C. Encinas, Joseph C. Watkins, [ ... ], Michael F. Hammer

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, [ ... ], Vincenzo Nigro

Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene

Lorenza Mittempergher, Anna M. Piskorz, [ ... ], René Bernards

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Rong Zhang, Jan Gehlen, [ ... ], Heiko Reutter

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

High prevalence of phenotypic pyrazinamide resistance and its association with pncA gene mutations in Mycobacterium tuberculosis isolates from Uganda

Resty Naluyange, Gerald Mboowa, [ ... ], Willy Ssengooba

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation

Chenyu Zhao, DongFang Tang, [ ... ], Xiaoliu Shi

Identification of NUDT15 gene variants in Amazonian Amerindians and admixed individuals from northern Brazil

Juliana Carla Gomes Rodrigues, Tatiane Piedade de Souza, [ ... ], Ney Pereira Carneiro dos Santos

Tryptophan residue 32 in human Cu-Zn superoxide dismutase modulates prion-like propagation and strain selection

Anthony Crown, Luke McAlary, [ ... ], Jacob I. Ayers

Increasing prevalence of a fluoroquinolone resistance mutation amongst Campylobacter jejuni isolates from four human infectious intestinal disease studies in the United Kingdom

Sam Haldenby, Christina Bronowski, [ ... ], Craig Winstanley

Two novel mutations in MSX1 causing oligodontia

Le Yang, Jia Liang, Haitang Yue, Zhuan Bian

Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss, August Y. Huang, [ ... ], Arin K. Greene

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