Varaico: Literature-Extracted Genetic Variants

Gene:CITED2
Variant:p.E234A
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CITED2

NM_006079.5:p.E234A

Associated Papers

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.

Ganesh VS et al.

The New England Journal of Medicine, 2024

Novel syndromic neurodevelopmental disorder caused by de novo deletion of CHASERR, a long noncoding RNA.

Ganesh VS et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."