Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.P41delFs
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SLC29A3

NM_018344.6:p.P41delFs

Associated Papers

Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation.

Biglari S et al.

Journal of Medical Genetics, 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

Type 1 diabetes genetic risk score discriminates between monogenic and Type 1 diabetes in children diagnosed at the age of <5 years in the Iranian population.

Yaghootkar H et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2019

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

Karacan İ et al.

Rheumatology International, 2019

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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."