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Frameshift mutation

Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major

Torin Abdulaziz Sadoon, Hemin Esmael Othman

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang, Wenyan Gong, [ ... ], Zhelan Zheng

Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant

Cristina Pastorino, Ludovica Menta, [ ... ], Renata Bocciardi

CRISPR-Cas9 targeting the bla_KPC gene in a clinical isolate of Klebsiella michiganensis: Reduction of imipenem resistance and changes in genomic carbapenem resistance determinants

Thaysa Leite Tagliaferri, Alex Krüttgen, [ ... ], Hans-Peter Horz

Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes

Jahangir Khan Tareen, Hamid Khan, [ ... ], Hong-Tao Li

Linking genetic and phenotypic bedaquiline resistance in Mycobacterium tuberculosis strains from Georgia

Nino Maghradze, Chloé Loiseau, [ ... ], Sebastien Gagneux

Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta

Nazlee Sharmin, Jerald Yuan, Ava K. Chow

Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

Siti Nur Idayu Matusin, Nuramalina Mumin, [ ... ], Mas Rina Wati Haji Abdul Hamid

Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis

Hajin Jeon, Jong Lyul Lee, [ ... ], Jin Ok Yang

The impact of mutations on TP53 protein and MicroRNA expression in HNSCC: Novel insights for diagnostic and therapeutic strategies

Ashraf Attia Mahmoud, Mohd Firdaus Raih, [ ... ], Sofia B. Mohamed

Systematic identification and characterization of high efficiency Cas9 guide RNAs for therapeutic targeting of ADAR

Benjamin G. Gowen, Kory Melton, [ ... ], Spencer C. Wei

ATM-deficient murine thymic T-cell lymphoblastic lymphomas are PTEN-deficient and require AKT signaling for survival

Joseph B. An, Karen S. Hathcock, [ ... ], Richard J. Hodes

Acquired resistance of Stenotrophomonas maltophilia to antimicrobials induced by herbicide paraquat dichloride

Veerakit Vanitshavit, Nisanart Charoenlap, [ ... ], Paiboon Vattanavibooon

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