Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.R84Q
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JUP

NM_002230.4:p.R84Q

Associated Papers

Expanding the clinical phenotype of FADD deficiency with a novel mutation and its role in Fas-mediated apoptotic pathway.

Setia P et al.

British Journal of Haematology, 2023

37199216 (PubMed )
Supplement: supplement_1.docx

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

Results of comprehensive genetic testing in patients presenting to a multidisciplinary inherited heart disease clinic in India.

Chockalingam P et al.

Indian Heart Journal, 0

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