Varaico: Literature-Extracted Genetic Variants

Gene:SLC19A3
Variant:p.Y298*
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SLC19A3

NM_025243.4:p.Y298*

Associated Papers

A Japanese patient with neonatal biotin-responsive basal ganglia disease.

Kobayashi M et al.

Human Genome Variation, 2022

Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?

Kamaşak T et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018

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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."