Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.F167S
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SLC30A10

NM_018713.3:p.F167S

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

Current understanding of ZIP and ZnT zinc transporters in human health and diseases.

Kambe T et al.

Cellular and Molecular Life Sciences : Cmls, 2014

Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

Quadri M et al.

American Journal of Human Genetics, 2012

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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."