Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.R386W
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SLC29A3

NM_018344.6:p.R386W

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

Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review.

Simsek E et al.

Hormone Research in Paediatrics, 2019

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Cereda M et al.

Nature Communications, 2016

27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › S6T2

Combination of four features of SLC29A3 spectrum disorder in a child: A case report.

Aslani N et al.

Pediatric Dermatology, 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."