Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.Q308*
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SLC30A10

NM_018713.3:p.Q308*

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

Case Report: Childhood Erythrocytosis due to Hypermanganesemia Caused by Homozygous SLC30A10 Mutation.

Coppola T et al.

Frontiers in Hematology, 2024

Genetic Disorders of Manganese Metabolism.

Anagianni S et al.

Current Neurology and Neuroscience Reports, 2019

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.

Tuschl K et al.

American Journal of Human Genetics, 2016

Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Avelino MA et al.

Journal of the Neurological Sciences, 2014

Inherited manganism.

Ribeiro RT et al.

Clinical Neurology and Neurosurgery, 2013

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.

Tuschl K et al.

American Journal of Human Genetics, 2012

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