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Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in which 59 unique variants were detected; of them, 47 were deleterious, 9 were variants of uncertain significance (VUS) and 3 had a conflicting interpretation of pathogenicity. Those variants were detected in 80 out of 90 alleles of the ATP7B gene. Of the participants, 23 (51.1%) patients had 2 deleterious variants (8 in homozygous and 15 in compound heterozygous state); 12 (26.7%) patients had 1 deleterious variant plus 1 VUS or 1 with conflicting pathogenicity; and 10 (22.2%) patients were carriers of a single disease-causing variant. The most frequent variant, c.4021G>A (p.Gly1341Ser), was detected in 5 alleles, while c.3191A>C (p.Glu1064Ala) was detected in 4 alleles, followed by c.2165dupT (p.Arg723GlufsTer32) and c.3247C>T (p.Leu1083Phe), each detected in 3 alleles. Among the 59 variants, 42 were missense, 9 were frameshift, 6 were stop-gain, 2 were splice-donors and 1 was an in-frame deletion. The variant H1069Q, which is common worldwide, was not detected in this study. Conclusions: The ATP7B mutational spectrum in Iraqi patients with WD is significantly diverse, despite high rates of consanguinity. Evidence was provided for 8 variants to be considered for reclassification as deleterious. The diagnostic criteria for those with high Leipzig scores with only a single deleterious variant remain questionable.

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Publication Date
Wed Jun 03 2026
Journal Name
Kufa Journal Of Arts
Compound thought :Or face crises from oneself to politics A Philosophical Study on the Editions of Edgar Moran
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Publication Date
Wed Jul 01 2015
Journal Name
Al–bahith Al–a'alami
The Position of the Oil Press about the World Oil Industry / OAPEC Bulletin 2011-2012 as a Model
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This research deals with the attitude of oil press towards oil industry in the world and the extent of their concerns with the stages of oil industry relating to the abundance of oil and natural gas, as it is an international strategic and complementary industry. The researcher uses the survey method for content analysis of the initial article and the press news for two: years (2011-2012). The results if the study are as follows
1- Oil press is concerned with developing and the stages of the Arabic oil industry in the interest of OAPEC in the first place.
2- It is concerned with exploring, extracting, and marketing oil in the first place, then with refining operations in refineries and petrochemical plants in the second place, an

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Publication Date
Thu Dec 01 2022
Journal Name
Chemical Data Collections
Removal of an anionic Eosin dye from aqueous solution using modified activated carbon prepared from date palm fronds
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Publication Date
Thu Jan 29 2026
Journal Name
Journal Of Interdisciplinary Mathematics
Efficient design of neural network based on modified LM training algorithm for solving nonlinear 4th order 3D-PDEs 
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Authors in this work design efficient neural networks, which are based on the modified Levenberg - Marquardt (LM) training algorithms to solve non-linear fourth - order three -dimensional partial differential equations in the two kinds in the periodic and in the non-periodic - Periodic. Software reliability growth models are essential tools for monitoring and evaluating the evolution of software reliability. Software defect detection events that occur during testing and operation are often treated as counting processes in many current models. However, when working with large software systems, the error detection process should be viewed as a random process with a continuous state space, since the number of faults found during testin

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Publication Date
Mon Jul 01 2013
Journal Name
Political Sciences Journal
Towards Promoting Political Participation of Female - University Students - Field Study on Al-Quds Open University Female - Students - Rafah
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نحو تعزيز المشاركة السياسية للطالبات الجامعيات الفلسطينيات

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Publication Date
Sun Oct 15 2017
Journal Name
Research Journal Of Applied Sciences, Engineering And Technology
Optimization of IPv6 Protocol Independent Multicast-Sparse Mode Multicast Routing Protocol based on Greedy Rendezvous Point Selection Algorithm
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Publication Date
Wed Jul 01 2015
Journal Name
Journal Of Educational And Psychological Researches
The impact of education differentiated strategy to modify the alternative conceptions Geographical concepts when students First grade average
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The aim of this study was to know ( the impact of education differentiated strategy to modify the alternative developments of geographical concepts when students first grade average) .
      To achieve the goal of this study , researcher relied on the experimental design of a partial set , the design is ( the experimental group with a control group of post-test )
.

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Publication Date
Sat Nov 01 2025
Journal Name
Journal Of Education And Health Promotion
Effect of deep-breathing exercise training on reducing stress among maintenance hemodialysis patients: Quasi-experimental randomized trial study
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BACKGROUND:

Dialysis is a stressful process and follows various psychological and social problems, which can lead to psychological disturbances. Patients on dialysis experience psychological distress, and the reduction of stress in patients provides psychological resources to cope with their physical condition. The study aimed to evaluate the effect of deep-breathing exercise training on the level of stress among maintenance hemodialysis patients.

MATERIALS AND METHODS:

This study is a randomized

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Publication Date
Tue Mar 03 2026
Journal Name
Scr Med
Retrieval of Migrated Guidewire Extending From Right Ventricular Apex to the Inferior Vena Cava via Pigtail-Assisted Snaring
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Intravascular embolisation of foreign bodies (FB) is a rare, serious complication that may occur during central venous line insertion. A 39-yearold male in a critical condition presented to casualty department with a through-and-through chest gunshot wound. Chest X-ray showed left haemothorax; an urgent chest tube was introduced and central venous access was introduced via the right femoral vein. The guided wire used in the procedure was unintentionally pushed to reach the right ventricular apex. Echocardiography confirmed FB location. Once stabilised, the patient was referred to Iraqi Centre of Cardiac Diseases, where transcatheter retrieval was performed. To stabilise the FB, a 6F pigtail catheter was used to create a U-shaped loop in the

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Publication Date
Mon May 27 2019
Journal Name
Al-khwarizmi Engineering Journal
Investigation the Influence of SPIF Parameters on Residual Stresses for Angular Surfaces Based on Iso-Planar Tool Path
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Incremental Sheet Metal Forming (ISMF) is a modern sheet metal forming technology which offers the possibility of manufacturing 3D complex parts of thin sheet metals using the CNC milling machine. The surface quality is a very important aspect in any manufacturing process. Therefore, this study focuses on the resultant residual stresses by forming parameters, namely; (tool shape, step over, feed rate, and slope angle) using Taguchi method for the products formed by single point incremental forming process (SPIF). For evaluating the surface quality, practical experiments to produce pyramid like shape have been implemented on aluminum sheets (AA1050) for thickness (0.9) mm. Three types of tool shape used in this work, the spherical tool ga

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