Varaico: Literature-Extracted Genetic Variants

Gene:SLC39A14
Variant:p.G356S
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SLC39A14

NM_001128431.4:p.G356S

Associated Papers

Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2.

Fang S et al.

Journal of Inherited Metabolic Disease, 2025

40320765 (PubMed )
Supplement: JIMD-48-0-s001.xlsx › Sheet1

Genotype-Phenotype Relations for the Dystonia-Parkinsonism Genes GLB1, SLC6A3, SLC30A10, SLC39A14, and PLA2G6: MDSGene Systematic Review.

Rodriguez-Antiguedad J et al.

International Journal of Molecular Sciences, 2025

Retrospective chart review of inherited and idiopathic dystonia.

Alakkas A et al.

Frontiers in Genetics, 2025

Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital.

Alhasan KA et al.

Children (basel, Switzerland), 2022

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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."