Varaico: Literature-Extracted Genetic Variants

Gene:SLC30A10
Variant:p.L349P
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SLC30A10

NM_018713.3:p.L349P

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

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

Treatable Hereditary Manganese Transport Disorder: Novel SLC30A10 Mutation and its Characteristic Neuroimaging Appearance in Two Siblings.

Santhakumar S et al.

Journal of Pediatric Genetics, 2021

Genetic Disorders of Manganese Metabolism.

Anagianni S et al.

Current Neurology and Neuroscience Reports, 2019

Disease-Homologous Mutation in the Cation Diffusion Facilitator Protein MamM Causes Single-Domain Structural Loss and Signifies Its Importance.

Barber-Zucker S et al.

Scientific Reports, 2016

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

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

Kambe T et al.

Cellular and Molecular Life Sciences : Cmls, 2014

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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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."