Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.Y30*
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SLC30A10

NM_018713.3:p.Y30*

Associated Papers

Molecular mechanisms of SLC30A10-mediated manganese transport.

Shen X et al.

Nature Communications, 2025

41022720 (PubMed )
Supplement: 41467_2025_63616_MOESM1_ESM.pdf

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

Genetic Disorders of Manganese Metabolism.

Anagianni S et al.

Current Neurology and Neuroscience Reports, 2019

Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.

Zaki MS et al.

Clinical Genetics, 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."