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Mutation

Duplex Proximity Sequencing (Pro-Seq): A method to improve DNA sequencing accuracy without the cost of molecular barcoding redundancy

Joel Pel, Wendy W. Y. Choi, [ ... ], Andre Marziali

Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex

Micol Gilberti, Enrico Baruffini, Claudia Donnini, Cristina Dallabona

Association between possession of ExoU and antibiotic resistance in Pseudomonas aeruginosa

Dinesh Subedi, Ajay Kumar Vijay, [ ... ], Mark Willcox

Amplification of GTP-cyclohydrolase 1 gene in Plasmodium falciparum isolates with the quadruple mutant of dihydrofolate reductase and dihydropteroate synthase genes in Ghana

Musah Osei, Felix Ansah, [ ... ], Nancy O. Duah

Impact of structural prior knowledge in SNV prediction: Towards causal variant finding in rare disease

Vasundhara Dehiya, Jaya Thomas, Lee Sael

Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition

Lorena Martin-Morales, Paula Rofes, [ ... ], Trinidad Caldes

A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity

Snigdha Majumder, Rakshit Shah, [ ... ], Arati Khanna-Gupta

Calorie restriction does not influence oocyte quality in oocytes from POLG mitochondrial mutator mice

Christine Faraci, Joyce Jin, Dori C. Woods

High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya, Olga Bezlepkina, [ ... ], Anatoly Tiulpakov

Improved production of polysaccharides in Ganoderma lingzhi mycelia by plasma mutagenesis and rapid screening of mutated strains through infrared spectroscopy

Yuhan Ma, Qianqian Zhang, [ ... ], Qing Huang

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

Sari U. M. Vanninen, Krista Leivo, [ ... ], Juha W. Koskenvuo

Heavy metal sensitivities of gene deletion strains for ITT1 and RPS1A connect their activities to the expression of URE2, a key gene involved in metal detoxification in yeast

Houman Moteshareie, Maryam Hajikarimlou, [ ... ], Ashkan Golshani

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

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