Varaico: Literature-Extracted Genetic Variants

Gene:SEMA3E
Variant:p.R208fs
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SEMA3E

NM_012431.3:p.R208fs

Associated Papers

A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression.

Paganoni AJJ et al.

International Journal of Molecular Sciences, 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."