Varaico: Literature-Extracted Genetic Variants

Gene:PRSS3
Variant:p.I53N
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PRSS3

NM_002771.4:p.I53N

Associated Papers

The CC2D2B is a novel genetic modifier of the clinical phenotype in patients with hereditary angioedema due to C1 inhibitor deficiency.

Rupar N et al.

Gene, 2024

A glioneuronal tumor with CLIP2-MET fusion.

Chowdhury T et al.

Npj Genomic Medicine, 2020

32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Skowron MA et al.

Scientific Reports, 2019

31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM11_ESM.xlsx › Unique_in_J82-LTT
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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."