Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.H336Y
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SLC30A10

NM_018713.3:p.H336Y

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

Familial Hypermanganesemia in Iran.

Tabatabaee SN et al.

Movement Disorders Clinical Practice, 2023

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children.

Garg D et al.

Movement Disorders Clinical Practice, 2022

A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism.

Tavasoli A et al.

Bmc Pediatrics, 2019

Genetic Disorders of Manganese Metabolism.

Anagianni S et al.

Current Neurology and Neuroscience Reports, 2019

Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.

Mukhtiar K et al.

Brain & Development, 2016

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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."