Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.K53R
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XPR1

NM_004736.4:p.K53R

Associated Papers

Human XPR1 structures reveal phosphate export mechanism.

Yan R et al.

Nature, 2024

XPR1 mutations are a rare cause of primary familial brain calcification.

Anheim M et al.

Journal of Neurology, 2016

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."