Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A19
Variant:p.F249I
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SLC25A19

NM_001126121.2:p.F249I

Associated Papers

Case report: Influenza A virus and Human herpesvirus 1 infection-associated acute encephalopathy in children with the mutations in the SLC25A19 andTICAM1 gene, respectively.

Ni J et al.

Idcases, 2023

Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.

Chen Y et al.

Orphanet Journal of Rare Diseases, 2021

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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."