Varaico: Literature-Extracted Genetic Variants

Gene:NLGN4X
Variant:p.L762V
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NLGN4X

NM_181332.3:p.L762V

Associated Papers

Case Report: De novo DDX3X mutation caused intellectual disability in a female with skewed X-chromosome inactivation on the mutant allele.

Sun Y et al.

Frontiers in Genetics, 2022

Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.

Vianna EQ et al.

Molecular Neurobiology, 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."