Varaico: Literature-Extracted Genetic Variants

Gene:PLXNA2
Variant:p.V1007I
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PLXNA2

NM_025179.4:p.V1007I

Associated Papers

Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.

Garcia L et al.

Stem Cell Research, 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."