Varaico: Literature-Extracted Genetic Variants

Gene:RBPJ
Variant:p.F66V
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RBPJ

NM_005349.4:p.F66V

Associated Papers

Defective Notch1 signaling in endothelial cells drives pathogenesis in a mouse model of Adams-Oliver syndrome.

Solano AF et al.

The Journal of Clinical Investigation, 2025

Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

Meester JAN et al.

Human Mutation, 2018

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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."