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Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Published 2019-01-01“…To evaluate accuracy of selected in silico tools (SIFT, FATHMM, MutationAssessor, PolyPhen-2, CONDEL, MutationTaster, MutPred, Align GVGD, and PROVEAN), we tested nine missense variants with previously confirmed clinical significance in a large cohort of deaf patients and control groups from the Sakha Republic (Eastern Siberia, Russia): Сх26: p.Val27Ile, p.Met34Thr, p.Val37Ile, p.Leu90Pro, p.Glu114Gly, p.Thr123Asn, and p.Val153Ile; Cx30: p.Glu101Lys; Cx31: p.Ala194Thr. …”
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Longitudinal associations of flare and damage accrual in patients with systemic lupus erythematosus
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SCUBADive. I. JWST+ALMA Analysis of 289 Submillimeter Galaxies in COSMOS-web
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On the Exponential Atom-Bond Connectivity Index of Graphs
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Educide amid conflict: the struggle of the Palestinian education system
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Analysis of the Rights and Obligations of Stakeholders in China’s National Park Concession System
Published 2025-02-01“…For concessionaires, the ideal state encompasses comprehensive rights as delineated by the Administrative License Law of the People’s Republic of China and associated regulations, including the right to operate without interference, access to policy support, and claim compensation for damage to legal rights and interests. …”
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CO<sub>2</sub>@C<sub>84</sub>: DFT Calculations of Structure and Energetics
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Health Inspections of Restaurant Establishments in the Attica Region, Greece. Non-compliance Data Within the Food Hygiene Sector
Published 2025-02-01“…Additionally, the assessment included the identification of unsafe food placement in accordance with Regulation EC/178/2002 on food safety, as well as Greek national legislation (European Commission, 2002; Hellenic Republic, 2006, 2014). Results: The highest non-compliance rates are in “adequacy of facilities” (14.12%), “equipment maintenance and sanitization” (12.30%), “pest control” (12.45%), “personal hygiene” (7.58%), and “efficient separation of raw materials” (9.76%). …”
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