Varaico: Literature-Extracted Genetic Variants

Gene:SLC41A1
Variant:p.K146E
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SLC41A1

NM_173854.6:p.K146E

Associated Papers

Variant R244H in Na+/Mg2+ exchanger SLC41A1 in Taiwanese Parkinson's disease is associated with loss of Mg2+ efflux function.

Lin CH et al.

Parkinsonism & Related Disorders, 2014

Substitution p.A350V in Na⁺/Mg²⁺ exchanger SLC41A1, potentially associated with Parkinson's disease, is a gain-of-function mutation.

Kolisek M et al.

Plos One, 2013

Genetic variants in the RAB7L1 and SLC41A1 genes of the PARK16 locus in Chinese Parkinson's disease patients.

Yan Y et al.

The International Journal of Neuroscience, 2011

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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."