Varaico: Literature-Extracted Genetic Variants

Gene:LRP1
Variant:p.E2822*
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LRP1

NM_002332.3:p.E2822*

Associated Papers

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

O'Neill AG et al.

Biorxiv : the Preprint Server for 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."