Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.L45P
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SLC30A10

NM_018713.3:p.L45P

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

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

Coppola T et al.

Frontiers in Hematology, 2024

"Cock-walk" gait and "horseshoe moustache" sign on MRI in inherited hypermanganesemia.

Cherian A et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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."