Varaico: Literature-Extracted Genetic Variants

Gene:PLA2G4A
Variant:p.S111P
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PLA2G4A

NM_024420.3:p.S111P

Associated Papers

Molecular Pathogenesis of Inherited Platelet Dysfunction.

Rodríguez-Alén A et al.

Biomolecules, 2025

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Nurden P et al.

Haematologica, 2021

Recent progress in phospholipase A₂ research: from cells to animals to humans.

Murakami M et al.

Progress in Lipid Research, 2011

Functional characterization of mutations in inherited human cPLA₂ deficiency.

Reed KA et al.

Biochemistry, 2011

The enteropathy of prostaglandin deficiency.

Adler DH et al.

Journal of Gastroenterology, 2009

Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.

Adler DH et al.

The Journal of Clinical Investigation, 2008

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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."