Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.V648I
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JUP

NM_002230.4:p.V648I

Associated Papers

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S2.xlsx › Supplementary_Table_2

Benefits and outcomes of a new multidisciplinary approach for the management and financing of sudden unexplained death cases in a forensic setting in Switzerland.

Neubauer J et al.

Forensic Science International, 2022

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

Evidence From Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies With Disease Severity and Family History.

Caforio ALP et al.

Circulation, 2020

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Candidate Gene Association Studies of Anthracycline-induced Cardiotoxicity: A Systematic Review and Meta-analysis.

Leong SL et al.

Scientific Reports, 2017

28232737 (PubMed )
Supplement: 41598_2017_75_MOESM1_ESM.pdf

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S12

Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Parker GJ et al.

Plos One, 2016

27603779 (PubMed )
Supplement: pone.0160653.s004.pdf

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.

Pagnamenta AT et al.

Human Molecular Genetics, 2015

25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2

Assessment of HaloPlex amplification for sequence capture and massively parallel sequencing of arrhythmogenic right ventricular cardiomyopathy-associated genes.

Gréen A et al.

The Journal of Molecular Diagnostics : Jmd, 2015

Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Tan BY et al.

Journal of Cardiovascular Translational Research, 2010

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

Koopmann TT et al.

Heart Rhythm, 2007

Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy.

Wasielewski M et al.

Open Heart, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."