Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.G225_G227del0
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EOMES

NM_001278182.2:p.G225_G227del0

Associated Papers

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.

Rizzi S et al.

American Journal of Medical Genetics. Part A, 2020

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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."