Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.M193T
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JUP

NM_002230.4:p.M193T

Associated Papers

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.

Shoda T et al.

Nature Communications, 2021

34815391 (PubMed )
Supplement: 41467_2021_26939_MOESM1_ESM.pdf

Infanticide vs. inherited cardiac arrhythmias.

Brohus M et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021

33200177 (PubMed )
Supplement: euaa272_supplementary_appendix.docx

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3

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_S1A
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