Varaico: Literature-Extracted Genetic Variants

Gene:REEP1
Variant:p.L118R
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REEP1

NM_001371279.1:p.L118R

Associated Papers

REEP1 Accumulation Disrupts ER Integrity and Drives Spinal Motoneuron Degeneration in Distal Hereditary Motor Neuropathy.

Bock A et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026

The membrane curvature-inducing REEP1-4 proteins generate an ER-derived vesicular compartment.

Shibata Y et al.

Nature Communications, 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."