Varaico: Literature-Extracted Genetic Variants

Gene:SLCO2A1
Variant:p.P374L
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SLCO2A1

NM_005630.3:p.P374L

Associated Papers

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

Mohammad M et al.

Cureus, 2025

Primary hypertrophic osteoarthropathy: phenotypic variability and penetrance rate in heterozygotes for SLCO2A1 variants.

Arcanjo AM et al.

Jbmr Plus, 2025

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

Monoallelic mutations in SLCO2A1 cause autosomal dominant primary hypertrophic osteoarthropathy.

Xu Y et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021

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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."