Varaico: Literature-Extracted Genetic Variants

Gene:SLC20A2
Variant:p.L140P
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SLC20A2

NM_001257180.2:p.L140P

Associated Papers

The Genetics of Primary Familial Brain Calcification: A Literature Review.

Chen SY et al.

International Journal of Molecular Sciences, 2023

XPR1: a Gene Linked to Primary Familial Brain Calcification Might Help Explain a Spectrum of Neuropsychiatric Disorders.

Moura DA et al.

Journal of Molecular Neuroscience : Mn, 2015

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.

Legati A et al.

Nature Genetics, 2015

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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."