PHENOTYPICAL AND MYOPATHOLOGICAL CONSEQUENCES OF COMPOUND HETEROZYGOUS MISSENSE AND NONSENSE VARIANTS IN SLC18A3

Phenotypical and Myopathological Consequences of Compound Heterozygous Missense and Nonsense Variants in SLC18A3

Background: Presynaptic forms of congenital myasthenic syndromes (CMS) due to pathogenic variants in SLC18A3 impairing the synthesis and recycling of acetylcholine (ACh) have recently been described.SLC18A3 encodes the vesicular ACh transporter (VAChT), modulating the active transport of ACh at the neuromuscular junction, and homozygous loss of VAC

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Analysis, Design, and Experimental Verification of a Parallel Wireless Power and Data Transmission Method for Rotary Steering Systems

In the rotary steering system of oil drilling, both power and data transmission are needed.This paper presents a parallel power and data transmission method for a rotating steering system Zeaxanthin with output voltage control.To reduce the size of the system, power and data are transmitted through the same rotational coupling mechanism.A power tra

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Iatrogenic aortic regurgitation following primary closure of ventricular septal defect: Role of transesophageal echocardiography

Vase (Set of 3) Iatrogenic valvular regurgitation following cardiac surgery has been reported as a result of leaflet perforation or entrapment.Due to its central location, the aortic valve is one of the most vulnerable structures for iatrogenic injuries.Proper assessment of the aortic valve by transesophageal echocardiography (TEE) Digital Probe Th

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