Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.R864W
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EPHB4

NM_004444.5:p.R864W

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.

Guilhem A et al.

Journal of Medical Genetics, 2023

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."