Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.G423_L424Fs
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SLC29A3

NM_018344.6:p.G423_L424Fs

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

Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.

Ma H et al.

Experimental Cell Research, 2024

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

Adult stem cell deficits drive Slc29a3 disorders in mice.

Nair S et al.

Nature Communications, 2019

31270333 (PubMed )
Supplement: 41467_2019_10925_MOESM1_ESM.pdf

Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome: Corrigendum.

Unknown Author

Chinese Medical Journal, 2015

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.

Liu JW et al.

Chinese Medical Journal, 2015

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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."