Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.L100_N101Splc
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SLC29A3

NM_018344.6:p.L100_N101Splc

Associated Papers

Unusual facial lesions in H syndrome.

Rekik M et al.

Clinical Case Reports, 2022

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

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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."