Varaico: Literature-Extracted Genetic Variants

Gene:EZH1
Variant:p.P311Splc
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EZH1

NM_001991.5:p.P311Splc

Associated Papers

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Gracia-Diaz C et al.

Nature Communications, 2023

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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."