Varaico: Literature-Extracted Genetic Variants

Gene:PSMD5
Variant:p.A364E
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PSMD5

NM_005047.4:p.A364E

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

31402090 (PubMed )
Supplement: mmc3.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."