Varaico: Literature-Extracted Genetic Variants

Gene:EZH1
Variant:p.K228*
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EZH1

NM_001991.5:p.K228*

Associated Papers

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Jangam SV et al.

Genetics, 2023

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster.

Jangam S et al.

Medrxiv : the Preprint Server for Health Sciences, 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."