Varaico: Literature-Extracted Genetic Variants

Gene:PRSS1
Variant:p.Q98insFs
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PRSS1

NM_002769.5:p.Q98insFs

Associated Papers

Diagnostically challenging ligneous conjunctivitis with confirmed PLG variants: clinical and genetic insights.

Bozkurt Oflaz A et al.

Ophthalmic Genetics, 2025

IgG4-Related Disease: Emerging Roles of Novel Genetic Variants, Immune Cell Subsets and Therapeutic Targets.

Tedesco L et al.

Allergy, 2025

Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism.

Emiroğlu M et al.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2023

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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."