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High tumor mutational burden predicts favorable response to anti-PD-(L)1 therapy in patients with solid tumor: a real-world pan-tumor analysis
Published 2023-04-01“…Background Tumor mutation burden (TMB) is an important biomarker to predict response to anti-PD-L1 treatment across cancer types. …”
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Predicting the impact of missense mutations on an unresolved protein’s stability, structure, and function: A case study of Alzheimer’s disease-associated TREM2 R47H variant
Published 2025-01-01“…However, AF2 falls short of predicting the effects of missense mutations on unresolved protein structures that may be informative to efforts in personalized medicine. …”
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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
Published 2025-02-01“…We focused on identifying genes that were significantly or recurrently mutated with coding point mutations, copy number aberrations, and their associations with patient outcomes. …”
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The R203M and D377Y mutations of the nucleocapsid protein promote SARS-CoV-2 infectivity by impairing RIG-I-mediated antiviral signaling.
Published 2025-01-01“…The viral protein mutations can modify virus-host interactions during virus evolution, and thus alter the extent of infection or pathogenicity. …”
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<i>KRAS</i>, <i>NRAS</i>, and <i>BRAF</i> Hot-Spot Mutations in Relation to Sidedness of Primary Colorectal Cancer: A Retrospective Cohort Study
Published 2025-01-01Subjects: Get full text
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Association of Androgen-Receptor Gene Mutations with the Copy Number of Androgen-Receptor Silk Protein A Complex and Glutathione-S-Transferases T1 and M1 in Prostate Cancer Patients
Published 2023-01-01“…The purpose of our work was to explore the association of mutations in the androgen receptor gene and copy numbers of the androgen-receptor silk protein A complex with glutathione-S-transferases T1 and M1 in prostate cancer patients. …”
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Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)
Published 2015-01-01“…Genetic testing for HSP in 2003 was negative; repeat testing in 2013 revealed a mutation in KIF5A (c.611G>A;p.Arg204Gln). Conclusions. …”
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Putative and pretreatment drug resistance mutations in reverse transcriptase gene among untreated chronic hepatitis B patients at Arifin Achmad Regional District Hospital, Riau, Indonesia
Published 2022-05-01“… Background: Mutations within the hepatitis B virus (HBV) reverse transcriptase (RT) gene have been associated with drug resistance against nucleos(t)ide analogs (NAs). …”
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A Study of the Relationship between the Polymorphism and Mutation of rs682429 and rs3781590 in the LRP5 Gene and Bone Metabolism in Postmenopausal Type 2 Diabetic Women in Xinjiang
Published 2020-01-01“…To explore the expression of the polymorphism and mutation of rs682429 and rs3781590 in the low-density lipoprotein receptor-related protein 5 (LRP5) genotype and to analyse the relationship of bone mineral density (BMD) and bone metabolism markers in postmenopausal women with type-2 diabetes mellitus (T2DM) in Xinjiang, China, to provide a basis for prevention and treatment of the disease. …”
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Optimization of Rendering Parameters of Cesium 3DTiles Model Based on Differential Evolution Algorithm
Published 2025-01-01Subjects: “…mutation strategies pool…”
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Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data
Published 2020-03-01Subjects: Get full text
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Rescue of Mutant CFTR Channel Activity by Investigational Co-Potentiator Therapy
Published 2025-01-01Subjects: Get full text
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Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome
Published 2025-01-01Subjects: Get full text
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