Tag : Variants

Neurology

Case-control association study of rare nonsynonymous variants of SCN1A and KCNQ2 in acute encephalopathy with biphasic seizures and late reduced diffusion

Newsemia
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is characterized by prolonged febrile seizures at onset and subsequent damage to the cerebral cortex...
Cardiology

NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus.

Newsemia
Related Articles NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. Am J Med Genet A. 2020 Mar 21;: Authors: Ritter A, Werner...
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Quantitative Approach to Fragmented QRS in Arrhythmogenic Cardiomyopathy: From Disease towards Asymptomatic Carriers of Pathogenic Variants

Newsemia
Roudijk, RW; Bosman, LP; van der Heijden, JF; de Bakker, JMT; Hauer, RNW; van Tintelen, JP; Asselbergs, FW; … Loh, P; + view all Roudijk,...
AI/ML

Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals.

Newsemia
Related Articles Deep learning models predict regulatory variants in pancreatic islets and refine type 2 diabetes association signals. Elife. 2020 Jan 27;9: Authors: Wesolowska-Andersen A,...
Gastroenterology

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center

Newsemia
A proportion of infants and young children with inflammatory bowel diseases (IBD) have subtypes associated with a single gene variant (monogenic IBD). We aimed to...
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Functional characterization of common BCL11B gene desert variants suggests a lymphocyte-mediated association of BCL11B with aortic stiffness

Newsemia
Al Maskari, R; Hardege, I; Cleary, S; Figg, N; Li, Y; Siew, K; Khir, A; … Yasmin, ; + view all Al Maskari, R; Hardege,...
Gastroenterology

Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

Newsemia
Lynch syndrome is caused by alterations in a specific group of genes. Patients with different types of genetic alterations develop adenomas and CRC at different...

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