Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.R540C
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JUP

NM_002230.4:p.R540C

Associated Papers

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Sahlin E et al.

Plos One, 2019

30615648 (PubMed )
Supplement: pone.0210017.s002.xlsx › Sheet1

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.

Inagaki N et al.

Journal of Human Genetics, 2018

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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."