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2001
A study on the codon usage bias of arenavirus common genes
Published 2025-01-01“…Our results suggest that codon usage pattern bias in arenaviruses is influenced by selection pressure and to a lesser extent by mutational selection.…”
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2002
A shadow Markov equation
Published 2023-11-01“…We show that this equation is characterized by invariance by cluster algebra mutations.…”
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2003
Preservation of cfRNA in cytological supernatants for cfDNA & cfRNA double detection in non‐small cell lung cancer patients
Published 2024-09-01“…Furthermore, we collected an additional set of malignant cytological and matched tumor samples from 84 NSCLC patients, cfDNA & cfRNA extraction and double detection for driver gene mutations was validated using the multi‐gene mutations detection by RT‐qPCR. …”
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2004
Analysis of the Clinicopathological Characteristics, Genetic Phenotypes, and Prognostics of Primary Pulmonary and Bronchial Adenoid Cystic Carcinoma
Published 2025-01-01“…The gene map of PACC and lung adenocarcinoma (LUAD) shows significant differences. Common mutations found in lung cancer were almost undetectable in PACC patients, whereas mutations in the NOTCH pathway were more common. …”
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2005
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Published 2018-01-01“…Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. …”
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2006
Knockdown resistance associated organochlorine resistance in mosquito–borne diseases (Anopheles culicifacies): A systematic review
Published 2025-01-01“…Articles meeting the inclusion criteria were assessed using the STROBE checklist. Data on kdr mutations, insecticide resistance, and effectiveness were analyzed across eight selected studies from various regions. …”
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2007
Folded and Unfolded Conformations of Proteins Involved in Pancreatic Cancer: a Layman's Guide
Published 2010-01-01“…In particular, we will focus on the most frequently mutated, or alternatively differently expressed, proteins in PC. …”
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2008
Prognostic Parameters for the Primary Care of Melanoma Patients: What Is Really Risky in Melanoma?
Published 2011-01-01“…Targeting just a few out of several potential mutations, BRAF-Inhibitors such as PLX 4032 achieved already tremendous results in the therapy of metastatic melanoma. …”
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2009
Genome Architecture and Its Roles in Human Copy Number Variation
Published 2014-12-01“…Furthermore, it has been found that human genomic repeats can also induce DNA replication errors and consequently result in CNV mutations. Some recent studies showed that DNA replication timing, which reflects the high-order information of genomic organization, is involved in human CNV mutations. …”
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2010
Genomic evolution of SARS-CoV-2 in Morocco: Insights from whole genome sequences collected from 2020 to 2024
Published 2025-03-01“…This study investigates the evolution and genetic diversity of SARS-CoV-2 strains circulating in Morocco to track the spread, clade distributions and mutations of the virus across various regions from February 2020 to June 2024. …”
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2011
The Role of FRMD7 in Idiopathic Infantile Nystagmus
Published 2012-01-01“…Although mutations in FRMD7 are known to cause IIN, very little is known about the function of the protein. …”
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2012
Focal Nodular Hyperplasia and Hepatocellular Adenoma around the World Viewed through the Scope of the Immunopathological Classification
Published 2013-01-01“…Identification of HCA subtypes using immunohistochemical techniques, namely, HNF1A-inactivated HCA (35–40%), inflammatory HCA (IHCA), and beta-catenin-mutated inflammatory HCA (b-IHCA) (50–55%), beta-catenin-activated HCA (5–10%), and unclassified HCA (10%) has greatly improved the diagnostic accuracy of benign hepatocellular nodules. …”
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2013
Política e politheia nos provérbios romenos do século XVIII
Published 2014-02-01“…In this framework, it was described three contexts (genetic, generic and functional) that caused mutations in the semantic of paremiologic structures. …”
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2014
Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency
Published 2019-01-01“…Moreover, we determined that 20 individuals contained harmful mutations, while the remaining 17 variants were benign. …”
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2015
Human phospholipases A2: a functional and evolutionary analysis
Published 2023-01-01“…Our study has found that the genes most tolerant to PLA2 mutations in humans (G4, G2, and G7 types) belong to the largest number of disease groups.…”
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2016
Exploring the impact of deleterious missense nonsynonymous single nucleotide polymorphisms in the DRD4 gene using computational approaches
Published 2025-01-01“…We identified the V116D and I129S mutations as the most damaging, followed by F201S in the dopamine-bound states. …”
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2017
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
Published 2012-01-01“…We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. …”
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2018
Characterization of the Occult Hepatitis B Virus Variants Circulating among the Blood Donors from Eastern India
Published 2013-01-01“…Clinically relevant mutations were prevalent among the OBI strains which are of serious concern.…”
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2019
Clinical characteristics of EGFR-ctDNA shedders in EGFR-mutant NSCLC patients
Published 2025-02-01“…NGS was used to evaluate patients mutational status at the progression of the disease. …”
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2020
Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism
Published 2010-01-01“…Moreover, mutations in other ribosomal protein coding genes account for about 25% of other DBA cases. …”
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