Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.L87P
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XPR1

NM_004736.4:p.L87P

Associated Papers

Synergistic activation of the human phosphate exporter XPR1 by KIDINS220 and inositol pyrophosphate.

Zuo P et al.

Nature Communications, 2025

40128258 (PubMed )
Supplement: 41467_2025_58200_MOESM1_ESM.pdf

XPR1 mutation related Fahr's disease presenting with a hemorrhagic stroke: a case report.

Han S et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

Human XPR1 structures reveal phosphate export mechanism.

Yan R et al.

Nature, 2024

Pericytes in Primary Familial Brain Calcification.

Zarb Y et al.

Advances in Experimental Medicine and Biology, 2019

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Ramos EM et al.

European Journal of Human Genetics : Ejhg, 2018

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

Anheim M et al.

Journal of Neurology, 2016

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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."