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Mutation databases

Loss of function Cbl-c mutations in solid tumors

Silvano Rakeem Daniels, Mariya Liyasova, [ ... ], Stanley Lipkowitz

In silico analysis of PFN1 related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira, Giovanni Henrique Almeida Silva Tellini, Joelma Freire De Mesquita

MLST typing of Treponema pallidum subsp. pallidum in the Czech Republic during 2004-2017: Clinical isolates belonged to 25 allelic profiles and harbored 8 novel allelic variants

Eliška Vrbová, Linda Grillová, [ ... ], David Šmajs

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients

Yoh-ichiro Iwasa, Shin-ya Nishio, [ ... ], Shin-ichi Usami

Mutplot: An easy-to-use online tool for plotting complex mutation data with flexibility

Weiwei Zhang, Cheng Wang, Xuan Zhang

Alleles associated with physical activity levels are estimated to be older than anatomically modern humans

Ayland C. Letsinger, Jorge Z. Granados, Sarah E. Little, J. Timothy Lightfoot

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

Arsenite malignantly transforms human prostate epithelial cells in vitro by gene amplification of mutated KRAS

B. Alex Merrick, Dhiral P. Phadke, [ ... ], Erik J. Tokar

Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease

Xiaopei Zhou, Weimin Jia, [ ... ], Xianqin Zhang

Genetic mutational status of genes regulating epigenetics: Role of the histone methyltransferase KMT2D in triple negative breast tumors

Sara Morcillo-Garcia, Maria del Mar Noblejas-Lopez, [ ... ], Alberto Ocana

Absence of pathogenic mutations in CD59 in chronic inflammatory demyelinating polyradiculoneuropathy

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

HuVarBase: A human variant database with comprehensive information at gene and protein levels

Kaliappan Ganesan, A. Kulandaisamy, S. Binny Priya, M. Michael Gromiha

Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study

Magali Olivier, Liacine Bouaoun, [ ... ], on behalf of the PRECAMA team

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