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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PECAM1

Variant:p.E432fs

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PECAM1

NM_000442.5:p.E432fs

hg38:chr17:64360338 TTC>N

Associated Papers

Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.

Zhao S et al.

Nature Communications, 2023

37978175 (PubMed )

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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."