Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.V478M
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IGHMBP2

NM_002180.3:p.V478M

Associated Papers

RNA helicase IGHMBP2 regulates THO complex to ensure cellular mRNA homeostasis.

Prusty AB et al.

Cell Reports, 2024

In Vitro Modeling as a Tool for Testing Therapeutics for Spinal Muscular Atrophy and IGHMBP2-Related Disorders.

Sierra-Delgado JA et al.

Biology, 2023

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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."