Varaico: Literature-Extracted Genetic Variants

Gene:ELP2
Variant:p.Q192*
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ELP2

NM_018255.4:p.Q192*

Associated Papers

Epilepsy or neurodevelopmental disorders are associated with homozygous and pathogenic ELP2 variation in three siblings.

Khalilov D et al.

Neurocase, 2022

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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."