Varaico: Literature-Extracted Genetic Variants

Gene:SPOP
Variant:p.V91I
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SPOP

NM_001007228.2:p.V91I

Associated Papers

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

Carvill GL et al.

Human Mutation, 2020

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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."