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Insertion mutation

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

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

Concentration of mitochondrial DNA mutations by cytoplasmic transfer from platelets to cultured mouse cells

Kaori Ishikawa, Kohei Kobayashi, [ ... ], Kazuto Nakada

Comparative analysis of mutational robustness of the intrinsically disordered viral protein VPg and of its interactor eIF4E

Jocelyne Walter, Justine Charon, [ ... ], Thierry Michon

Agnostic detection of genomic alterations by holistic DNA structural interrogation

Ryan K. Shultzaberger, Rachel E. Abrams, [ ... ], John Dresios

Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients

Natália Candido Caçador, Carolina Paulino da Costa Capizzani, [ ... ], Niels Høiby

The zebrafish orthologue of familial Alzheimer’s disease gene PRESENILIN 2 is required for normal adult melanotic skin pigmentation

Haowei Jiang, Morgan Newman, Michael Lardelli

Functional abnormalities in induced Pluripotent Stem Cell-derived cardiomyocytes generated from titin-mutated patients with dilated cardiomyopathy

Revital Schick, Lucy N. Mekies, [ ... ], Ofer Binah

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

Substantial improvement of toyocamycin production in Streptomyces diastatochromogenes by cumulative drug-resistance mutations

Xu-Ping Shentu, Zhen-Yan Cao, [ ... ], Xiao-Ping Yu

Genetic heterogeneity and mutational signature in Chinese Epstein-Barr virus-positive diffuse large B-cell lymphoma

Fang Liu, Zhe Wang, [ ... ], Huilan Rao

Characterization of Drosophila ATPsynC mutants as a new model of mitochondrial ATP synthase disorders

Domenica Lovero, Luca Giordano, [ ... ], Corrado Caggese

Characterization of intra- and inter-host norovirus P2 genetic variability in linked individuals by amplicon sequencing

Aurora Sabrià, Rosa M. Pintó, [ ... ], the Working Group for the Study of Outbreaks of Acute Gastroenteritis in Catalonia

Utilizing host endogenous microRNAs to negatively regulate the replication of porcine reproductive and respiratory syndrome virus in MARC-145 cells

Liwei Li, Fei Gao, [ ... ], Guangzhi Tong

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