Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.Q410*
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SLC29A3

NM_018344.6:p.Q410*

Associated Papers

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

Matake I et al.

Iscience, 2025

41476938 (PubMed )
Supplement: mmc1.pdf

Diagnosis and Phenotypes of Idiopathic Diabetes: A Systematic Review.

El Nahas R et al.

Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 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

The Epidemiology and Genetic Analysis of Children With Idiopathic Type 1 Diabetes in the State of Qatar.

Abdel-Karim T et al.

Journal of the Endocrine Society, 2021

H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.

Hamad A et al.

Hematology/oncology and Stem Cell Therapy, 0

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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."