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Nonsense mutation

Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish

Emma M. Lessieur, Ping Song, [ ... ], Brian D. Perkins

Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations

Andreea Nissenkorn, Yael Almog, [ ... ], Moran Rubinstein

The ezh2(sa1199) mutant zebrafish display no distinct phenotype

Bilge San, Julien Rougeot, [ ... ], Leonie M. Kamminga

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, [ ... ], Laia Pedrola

Mutation of a serine near the catalytic site of the choline acetyltransferase a gene almost completely abolishes motility of the zebrafish embryo

Swarnima Joshi, Sanamjeet Virdi, [ ... ], Uwe Strähle

The minor gentamicin complex component, X2, is a potent premature stop codon readthrough molecule with therapeutic potential

Westley J. Friesen, Briana Johnson, [ ... ], Stuart W. Peltz

Examining the contribution of smoking and HPV towards the etiology of oral cavity squamous cell carcinoma using high-throughput sequencing: A prospective observational study

Andrew P. Zammit, Rohit Sinha, [ ... ], Zewen K. Tuong

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, [ ... ], Keyur P. Patel

Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling

C. James Cooper, Nikkita T. Dutta, [ ... ], Nina Jones

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Guoli Li, Xinwu Guo, [ ... ], Jun Wang

Next generation sequencing reveals a novel nonsense mutation in MSX1 gene related to oligodontia

Ondřej Bonczek, Peter Bielik, [ ... ], Omar Šerý

Identification of induced mutations in hexaploid wheat genome using exome capture assay

Momina Hussain, Muhammad Atif Iqbal, Bradley J. Till, Mehboob-ur- Rahman

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