Varaico: Literature-Extracted Genetic Variants

Gene:FBXW11
Variant:p.A364D
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FBXW11

NM_001378974.1:p.A364D

Associated Papers

A novel FBXW11 variant in a patient with neurodevelopmental, jaw, eye, and digital syndrome.

Maznina A et al.

Neurogenetics, 2025

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

Holt RJ et al.

American Journal of Human Genetics, 2019

31402090 (PubMed )
Supplement: mmc1.pdf
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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."