Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.G285delFs
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SLCO2A1

NM_005630.3:p.G285delFs

Associated Papers

Pachydermoperiostosis Associated With a Rare SLCO2A1 Mutation: A Case Report and Literature Review.

Mohammad M et al.

Cureus, 2025

Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene.

Shang Q et al.

Orphanet Journal of Rare Diseases, 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

Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene.

Huang H et al.

Digestive Diseases and Sciences, 2021

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

Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.

Hou Y et al.

Bone, 2018

Identification of the Mutations in the Prostaglandin Transporter Gene, SLCO2A1 and Clinical Characterization in Korean Patients with Pachydermoperiostosis.

Lee S et al.

Journal of Korean Medical Science, 2016

Mutations in the SLCO2A1 gene and primary hypertrophic osteoarthropathy: a clinical and biochemical characterization.

Zhang Z et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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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."