Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.P398S
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EPHB4

NM_004444.5:p.P398S

Associated Papers

Capillary malformation-arteriovenous malformation syndrome (CM-AVM): a systematic review of cerebrovascular manifestations.

Palermo M et al.

Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2025

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation.

Revencu N et al.

Journal of Medical Genetics, 2020

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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."