Varaico: Literature-Extracted Genetic Variants

Gene:XPR1
Variant:p.R624H
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XPR1

NM_004736.4:p.R624H

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

Transport and InsP8 gating mechanisms of the human inorganic phosphate exporter XPR1.

Zhu Q et al.

Nature Communications, 2025

Structural basis of phosphate export by human XPR1.

He Q et al.

Nature Communications, 2025

Primary Familial Brain Calcification With XPR1 Mutation Presenting With Cognitive Dysfunction.

Yoon S et al.

Journal of Clinical Neurology (seoul, Korea), 2024

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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."