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Frameshift mutation

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, [ ... ], Lin Li

Rapid resistance development to three antistaphylococcal therapies in antibiotic-tolerant staphylococcus aureus bacteremia

Christopher R. Miller, Jonathan M. Monk, Richard Szubin, Andrew D. Berti

Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers

Wei Yin, Xiaoqian Ye, Huali Fan, Zhuan Bian

Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers

Abdulaziz B. Hamid, Lauren E. Frank, Renee A. Bouley, Ruben C. Petreaca

Chimeras of p14ARF and p16: Functional Hybrids with the Ability to Arrest Growth

Richard T. Williams, Lisa M. Barnhill, [ ... ], Mitchell B. Diccianni

ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia

Małgorzata Kurkowiak, Ewa Ziętkiewicz, [ ... ], Michał Witt

Nucleophosmin1 and isocitrate dehydrogenase 1 and 2 as measurable residual disease markers in acute myeloid leukemia

Petra Kövy, Zoltán Őrfi, [ ... ], Hajnalka Andrikovics

SQSTM1 Mutations and Glaucoma

Todd E. Scheetz, Ben R. Roos, [ ... ], John H. Fingert

Atypical Role for PhoU in Mutagenic Break Repair under Stress in Escherichia coli

Janet L. Gibson, Mary-Jane Lombardo, [ ... ], Susan M. Rosenberg

Evidence for a Rad18-Independent Frameshift Mutagenesis Pathway in Human Cell-Free Extracts

Régine Janel-Bintz, Jérôme Wagner, [ ... ], Agnès M. Cordonnier

A Naturally Occurring rev1-vpu Fusion Gene Does Not Confer a Fitness Advantage to HIV-1

Simon M. Langer, Kristina Hopfensperger, [ ... ], Daniel Sauter

Discovery of a Streptococcus pneumoniae serotype 33F capsular polysaccharide locus that lacks wcjE and contains a wcyO pseudogene

Sam Manna, Eileen M. Dunne, [ ... ], Catherine Satzke

Targeting nonsense-mediated RNA decay does not increase progranulin levels in the Grn ^R493X mouse model of frontotemporal dementia

Denise M. Smith, Michael L. Niehoff, [ ... ], Andrew D. Nguyen

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