Varaico: Literature-Extracted Genetic Variants

Gene:UBA5
Variant:p.P231L
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UBA5

NM_024818.6:p.P231L

Associated Papers

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.

Palmer EE et al.

Neurology, 2021

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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."