Varaico: Literature-Extracted Genetic Variants

Gene:BTRC
Variant:p.D242H
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BTRC

NM_003939.5:p.D242H

Associated Papers

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

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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."