Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.L385_R386delins
Back to variants list

SLC29A3

NM_018344.6:p.L385_R386delins

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."