Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.L874P
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EPHB4

NM_004444.5:p.L874P

Associated Papers

Second Report of the p.Leu874Pro Missense Variant in  EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome.

Goeser LE et al.

American Journal of Medical Genetics. Part A, 2025

EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Zeng X et al.

Trends in Molecular Medicine, 2019

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."