Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.G208R
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SLC29A3

NM_018344.6:p.G208R

Associated Papers

Innate immune responses to lysosomal nucleic acid stress.

Miyake K et al.

Journal of Biochemistry, 2025

Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.

Ma H et al.

Experimental Cell Research, 2024

Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.

Chouk H et al.

Human Genomics, 2021

Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.

Fujita E et al.

The Journal of Dermatology, 2015

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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."