Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.K208_K209insFs
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SLC19A3

NM_025243.4:p.K208_K209insFs

Associated Papers

Disease models of Leigh syndrome: From yeast to organoids.

Henke MT et al.

Journal of Inherited Metabolic Disease, 2024

An Overview of Canine Inherited Neurological Disorders with Known Causal Variants.

Cocostîrc V et al.

Animals : an Open Access Journal From Mdpi, 2023

SLC19A3 Loss-of-Function Variant in Yorkshire Terriers with Leigh-Like Subacute Necrotizing Encephalopathy.

Drögemüller M et al.

Genes, 2020

Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1.

Vernau K et al.

Brain Pathology (zurich, Switzerland), 2015

Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy.

Vernau KM et al.

Plos One, 2013

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 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."