Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.D242V
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EPHB4

NM_004444.5:p.D242V

Associated Papers

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Amyere M et al.

Circulation, 2017

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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."