Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.P391H
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SLC29A3

NM_018344.6:p.P391H

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

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.

Uludağ Alkaya D et al.

American Journal of Medical Genetics. Part A, 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."