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Frameshift mutation

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

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

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

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

Nazlee Sharmin, Jerald Yuan, Ava K. Chow

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

Distinct mutational landscapes and phylogenomic insights of the SARS-CoV-2 delta variant in Pakistan and India: Regional evolution, novel mutations, and epidemiological implications

Nazia Fiaz, Atia Basheer, [ ... ], Tahir Yaqub

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