Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.R97C
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SLCO2A1

NM_005630.3:p.R97C

Associated Papers

Structure and transport mechanism of the human prostaglandin transporter SLCO2A1.

Xia Z et al.

Nature Communications, 2025

A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report.

Mettananda S et al.

Bmc Pediatrics, 2024

Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review.

Kimball TN et al.

American Journal of Medical Genetics. Part A, 2024

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report.

Albawa'neh A et al.

Frontiers in Genetics, 2022

Recent advances in studies of SLCO2A1 as a key regulator of the delivery of prostaglandins to their sites of action.

Nakanishi T et al.

Pharmacology & Therapeutics, 2021

Pachydermoperiostosis: The value of molecular diagnosis.

Seta V et al.

Annales De Dermatologie Et De Venereologie, 2017

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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."