Varaico: Literature-Extracted Genetic Variants

Gene:EML1
Variant:p.G231D
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EML1

NM_004434.3:p.G231D

Associated Papers

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.

Markus F et al.

Journal of Human Genetics, 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."