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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMEM130

Variant:p.P78L

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TMEM130

NM_152913.3:p.P78L

hg38:chr7:98863253 G>A

Associated Papers

Endothelial hyperactivation of mutant MAP3K3 induces cerebral cavernous malformation enhanced by PIK3CA GOF mutation.

Huo R et al.

Angiogenesis, 2023

36719480 (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."