Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.L349fs
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SLC29A3

NM_018344.6:p.L349fs

Associated Papers

ENT3: A lysosomal urate transporter regulating urate disposition and macrophage inflammation.

Matake I et al.

Iscience, 2025

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.

Rezaie N et al.

Bmc Medical Genomics, 2024

Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin.

Farooq M et al.

Dermatology (basel, Switzerland), 2012

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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."