Varaico: Literature-Extracted Genetic Variants

Gene:EPHB4
Variant:p.V330M
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EPHB4

NM_004444.5:p.V330M

Associated Papers

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Wooderchak-Donahue WL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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