Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.S508Splc
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SLC20A2

NM_001257180.2:p.S508Splc

Associated Papers

The Genetic and Phenotypic Spectrum of Primary Brain Calcification in a Large Cohort from China.

Lin Z et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

A splice site mutation causing exon 6 skipping in SLC20A2 gene in a primary familial brain calcification family.

Huang YT et al.

Brain Research Bulletin, 2019

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.

Lemos RR et al.

Human Mutation, 2015

Novel mutation of SLC20A2 in an Italian patient presenting with migraine.

Rubino E et al.

Journal of Neurology, 2014

The genetics of primary familial brain calcifications.

Westenberger A et al.

Current Neurology and Neuroscience Reports, 2014

Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification.

Hsu SC et al.

Neurogenetics, 2013

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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."