Varaico: Literature-Extracted Genetic Variants

Gene:SLC25A19
Variant:p.L290Q
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SLC25A19

NM_001126121.2:p.L290Q

Associated Papers

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

Chen Y et al.

Orphanet Journal of Rare Diseases, 2021

SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.

Porta F et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Palmieri F et al.

Biomolecules, 2020

Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.

Gowda VK et al.

Neuropediatrics, 2019

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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."