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Nonsense mutation

Somatic mutations in intracranial arteriovenous malformations

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

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Jie Liu, Weiwei Zhao, [ ... ], Nanshan Zhong

The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

Emma J. Brasell, Lee Lee Chu, [ ... ], Paul Goodyer

Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing

You Jin Chun, Jae Woo Choi, [ ... ], Korean Lung Cancer Consortium (KLCC)

Re-evaluation of a Tn5::gacA mutant of Pseudomonas syringae pv. tomato DC3000 uncovers roles for uvrC and anmK in promoting virulence

Megan R. O’Malley, Alexandra J. Weisberg, Jeff H. Chang, Jeffrey C. Anderson

False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases

Young-Ho Kim, Yura Song, [ ... ], Kyeong-Man Hong

Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells

Shigeharu G. Yabe, Junko Nishida, [ ... ], Hitoshi Okochi

The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418

Michael W. Ferguson, Chloe A. N. Gerak, [ ... ], Michel Roberge

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

Weiwei Zhang, Cheng Wang, Xuan Zhang

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

Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4^st72 allele in zebrafish

Max Krall, Stephanie Htun, Anne Slavotinek

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

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